22q112

Digamber S Borgaonkar

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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.

Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

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22q112

22q11.2

Same entry as in 01p136 (Menezo et al, 1997).
Same entry as in 01p220 (Gotter et al, 2004).
Same entry as in 01q210 (Savasan et al, 1998).
Same entry as in 02q130 (Fuster et al, 1997).
Same entry as in 04p163 (Reddy et al, 1996).
Same entry as in 04q320 (Lespinasse et al, 2004).
Same entry as in 07q320 (McGhee et al, 2000).
Same entry as in 08q241 (Mark et al, 2005).
Same entry as in 09q210 (Morel et al, 2004).
Same entry as in 09q343 (McGoey and Lacassie, 2009).
Same entry as in 0Xp114 (Armour et al, 2008).
Same entry as in 0Xp212 (Fidzianska et al, 1995).
Same entry as in 0Xp223 (Reddy and Yang, 2003).
Same entry as in 11q230 (de et al, 1998).
Same entry as in 11q230 (Macville et al, 2006).
Same entry as in 11q233 (Dawson et al, 1996).
Same entry as in 11q233 (Kadir et al, 1997).
Same entry as in 11q233 (Kulharya et al, 2002).
Same entry as in 11q233 (Toyoshima et al, 2009).
Same entry as in 13p110 (Lespinasse et al, 2003).
Same entry as in 16p133 (Can et al, 1998).
Same entry as in 20q133 (Carratala et al, 1998).
Same entry as in 21p110 (Arab et al, 1999).
Same entry as in 22p130 (Wenger et al, 2000).
Same entry as in 46,XX Male (Erickson et al, 2003).
Same entry as in 47,XXY (Velgaleti et al, 2000).
Same entry as in 05q313 (Xu et al, 1997).
Same entry as in 0Xp11.2 (Waters et al, 2001).
Same entry as in 11q230 (Kirchhoff et al, 2001).
Same entry as in 12q24.3 (Tonnies et al, 2001).
Adachi M, Tachibana K, Masuno M, Makita Y, Maesaka H, Okada T, Hizukuri K, Imaizumi K, Kuroki Y, Kurahashi H, Suwa S.: Clinical characteristics of children with hypoparathyroidism due to 22q11.2 microdeletion. Europ. J. Pediat. 157:34-38, 1998. [PubMed: 9461360]
10/16 patients showed the del(22).
46,XX and XY.ish del(22)(q11.2)(D22S75,D333S502-)
Other anomalies were cardiac defect (5/10), recurrent infection (1/10), cleft palate (1/10), Graves disease (2/10), idiopathic thrombocytopenia (2/10).
Aberration: Interstitial deletion
MIM#: 188400
Chromosomal Aneuploidy: 22q-
Index Terms: Hypoparathyroidism
Arico M, Bettinelli A, Maccario R, Clementi R, Bossi G, Danesino C.: Hemophagocytic lymphohistiocytosis in a patient with deletion of 22q11.2. AJMG 87:329-330, 1999. [PubMed: 10588839]
46,XX,del(22)(q11.2)ish(D22S75-)
The patient, of Iraqi ancestry, had minor facial anomalies and cardiac malformation. Bone marrow aspiration showed active erythrophagocytosis. She died at the age 6 2/12 years.
Aberration: Interstitial deletion
MIM#: 267700
Chromosomal Aneuploidy: 22q-
Index Terms: Hemophagocytic lymphohistiocytosis,Iraqi ancestry
Same entry as in 04p153,11q233 (Aurias et al, 1978).
Baumer A, Dutly F, Balmer D, Riegel M, Tukel T, Krajewska-Walasek M, Schinzel A A.: High level of unequal meiotic crossovers at the origin of the 22q11.2 and 7q11.23 deletions. Hum. Mol. Genet. 7:887-894, 1998. [PubMed: 9536094]
Baumer A, Riegel M, Schinzel A.: Non-random asynchronous replication at 22q11.2 favours unequal meiotic crossovers leading to the human 22q11.2 deletion. J. Med. Genet. 41:413-420, 2004. [PMC free article: PMC1735820] [PubMed: 15173225]
Asynchronous replication at 22q11.2 was observed without exception in all 20 individuals. The earlier replicating allele was found to be of paternal origin in all cases.
11 probands, in 10 families, with CATCH 22 were studied.
4 had a deletion affecting the maternal chromosome and 6 the paternal chromosome.
Aberration: Interstitial deletion
Chromosomal Aneuploidy: 22q-
Index Terms: Unequal meiotic crossing-over
Bawle E V, Conard J, Van Dyke D L, Czarnecki P, Driscoll D A.: Seven new cases of Cayler cardiofacial syndrome with chromosome 22q11.2 deletion, including a familial case. AJMG 79:406-410, 1998. [PubMed: 9779813]
Aberration: Interstitial deletion
MIM#: 125520
Chromosomal Aneuploidy: 22q-
Index Terms: Cayler cardiofacial syndrome
No band
Bovie C, Holden S T, Schroer A, Smith E, Trump D, Raymond F L.: Neurofibromatosis 2 in a patient with a de bovo balanced reciprocal translocation 46,X,t(X;22)(p11.2;q11.2). J. Med. Genet. 40:682-684, 2003. [PMC free article: PMC1735591] [PubMed: 12960214]
46,X,t(X;22)(p11.2;q11.2)de novo
The 26 year old was mentally handicapped amd living in a residential home. A large abdominal schwannoma was found when she presented with acute abdominal pain. On MRI, she was found to have bilateral vestibular schwannomas and thus satisfied the diagnostic criteria for NF2..
The chromosome 22 translocation breakpoint was 6 Mb centromeric to the NF2 gene and was defined by a single breakpoint spanning cosmid. The likely mechanism of disease is that a proportion of Schwann cells have one NF2 allele acting as a functional null by virtue of NF2 being translocated to the X chromosome and aberrant inactivation (100%) of the X;autosome in the tumor tissue.
Aberration: Reciprocal translocation
MIM#: 101000
Index Terms: Neurofibromatosis, NF2
Digilio M C, Giannotti A, Dallapiccola B, Marino B.: Postural anomaly of the head-neck-shoulder alignment in patients with deletion 22q11.2 (DiGeorge/velocardiofacial syndrome). Clin. Genet. 64:447-448, 2003. [PubMed: 14616771]
Aberration: Interstitial deletion
MIM#: 188400
Chromosomal Aneuploidy: 22q-
Index Terms: DiGeorge syndrome, archival specimen
Negative band
Same entry as in 11q232 (Chandley, 1992).
Same entry as in 11q230 (Cohen et al, 1992).
Consevage M W, Seip J R, Belchis D A, Davis A T, Baylen B G, Rogan P K.: Association of a mosaic chromosomal 22q11 deletion with hypoplastic left heart syndrome. Am. J. Cardiol. 77:1023-1025, 1996. [PubMed: 8644631]
The patient died due to multiple organ failure 5 days after birth.
Deletion was demonstrated by the use of D22S75 probe.
Aberration: Interstitial deletion
MIM#: 241550
Chromosomal Aneuploidy: 22q-
Index Terms: Hypoplastic left heart syndrome
No band
Davidson A, Khandelwal M, Punnett H H.: Prenatal diagnosis of the 22q11 deletion syndrome. Prenat. Diag. 17:380-383, 1997. [PubMed: 9160392]
Garcia-Heras J, Rao P N, Stettler R W, Huslig M, Smart R L, Pettenati M J.: Prenatal detection of a deletion 22q11 by FISH. Prenat. Diag. 18:411-413, 1998. [PubMed: 9602495]
46,XY.ish der del(22)(q11.2q11.2)(D22S75-)mat.
The patient was being evaluated because of polyhydramnios and was found to have aortic arch type B by echocardiography.
Mother is mildy retarded but is normal.
Aberration: Interstitial deletion
MIM#: 188400
Chromosomal Aneuploidy: 22q-
Index Terms: Polyhydramnios,interrupted aortic arch type B
De Decker H P, Lawrenson J B.: The 22q11.2 deletion: from diversity to a single gene theory. Genet. in Med. 3:2-5, 2001. [PubMed: 11339372]
This whole issue, essentially proceedings of a conference held in June 2000, is devoted to 22q11.2 deletion phenomenon. Basic biology, clinical consequences are discussed by various authors in 15 articles (not all of them will be cited by me here).
Aberration: Interstitial deletion
Chromosomal Aneuploidy: 22q-
No band
Same entry as in 11q232 (Delattre et al, 1988).
Demczuk S, Aurias A.: DiGeorge syndrome and related syndromes associated with 22q11.2 deletions. A review. Ann. Genet. 38:59-76, 1995. [PubMed: 7486827]
Demczuk S, Desmaze C, Aikem M, Prieur M, Ledeist F, Sanson M, Rouleau G, Thomas G, Aurias A.: Molecular cytogenetic analysis of a series of 23 DiGeorge syndrome patients by fluorescence in situ hybridization. Ann. Genet. 37:60-65, 1994. [PubMed: 7985979]
Demczuk S, Levy A, Aubry M, Croquette M F, Philip N, Prieur M, Sauer U, Bouvagnet P, Rouleau G A, Thomas G, Aurias A.: Excess deletions of maternal origin in the DiGeorge/Velo-cardio-facial syndromes. A study of 22 new patients and review of the literature. Hum. Genet. 96:9-13, 1995. [PubMed: 7607662]
23 patients were studied.
46,XX or XY,del(22)(q11.2).
All patients were suspected to have DGS.
The deletion was demonstrated by FISH in 22 cases using 6 cosmid probes and cytogenetically in only 4 patients.
Aberration: Interstitial deletion
MIM#: 188400
Chromosomal Aneuploidy: 22q-
Index Terms: Di George syndrome
Negative band
Derbent M, Bikmaz Y E, Yilmaz Z, Tokel K.: Variable phenotype and associations in chromosome 22q11.2 microdeletion. AJMG DOI=10.1002/ajmg.a.31120; 140A:659-660, 2006. [PubMed: 16470688]
Aberration: Interstitial deletion
Chromosomal Aneuploidy: 22q-
Desmaze C, Scambler P, Prieur M, Halford S, Sidi D, Le Deist F, Aurias A: Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization. Hum. Genet. 90:663-665, 1993. [PubMed: 8444474]
Ten patients were screened.
del(22)(q11.2).
Probe KI-506(D22S139) was used.
Aberration: Interstitial deletion
MIM#: 188400
Chromosomal Aneuploidy: 22q-
Negative band
Digilio M C, Angioni A, De Santis M, Lombardo A, Giannotti A, Dallapiccola B, Marino B. : Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies. Clin. Genet. 63:308-313; DOI=10.1034/j.1339-0004.2003.00049x, 2003. [PubMed: 12702165]
Digilio M C, Giannotti A, Marino B, Guadagni A M, Orzalesi M, Dallapiccola B.: Radial aplasia and chromosome 22q11 deletion. J. Med. Genet. 34:942-944, 1997. [PMC free article: PMC1051127] [PubMed: 9391893]
Digilio M C, Marino B, Giannotti A, Castro M, Colistro F, Ferretti F, Dallapiccola B.: Screening for celiac disease in patients with deletion 22q11.2 (DiGeorge/velo-cardio-facial syndrome). AJMG DOI=10.1002/ajmg.a.20254;121A:286-288, 2003. [PubMed: 12923874]
In the 2003 (Clin. Genet.) article, the authors suggest that both parents of all patients should be tested irrespective of their phenotype.
46,XY,ish del(22)(q11.2)(D22S75, D22S39-)
The neonate presented with facial dysmorphism, ocular coloboma, congenital heart defect, urogenital malformation, and unilateral radial aplasia.
Aberration: Interstitial deletion
Chromosomal Aneuploidy: 22q-
Index Terms: Radial aplasia
No band
Digilio M C, Marino B, Bagolan P, Giannotti A, Dallapiccola B.: Microdeletion 22q11 and oesophageal atresia. J. Med. Genet. 36:137-139, 1999. [PMC free article: PMC1734297] [PubMed: 10051013]
15 patients with OA were screened by FISH for del(22)(q11.2).
One patient with del(22)(q11.2) had tetralogy of Fallot, anal atresia, neonatal hypocalcaemia, and subtle facial anomalies resembling velocardiofacial syndrome.
Aberration: Interstitial deletion
Chromosomal Aneuploidy: 22q-
Index Terms: Oesophageal atresia,VACTERL association
Digilio M C, Marino B, Giannotti A, Dallapiccola B.: Familial deletions of chromosome 22q11. AJMG 73:95-96, 1997. [PubMed: 9375932]
Gerdes M, Solot C, Wang P P, Moss E, LaRossa D, Randall P, Goldmuntz E, Clark B J, III, Driscoll D A, Jawad A, Emanuel B S, McDonald-McGinn D M, Batshaw M L, Zackai E H.: Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion. AJMG 85:127-133, 1999. [PubMed: 10406665]
Kao A, Mariani J, McDonald-McGinn D M, Maisenbacher M K, Brooks-Kayal A R, Zackai E H, Lynch D R.: Increased prevalence of unprovoked seizures in patients with a 22q11.2 deletion. AJMG 129A:29-34, 2004. [PubMed: 15266612]
Leana-Cox J, Pangkanon S, Eanet K R, Curtin M S, Wulfsberg E A.: Familial DiGeorge/Velocardiofacial syndrome with deletions of chromosome area 22q11.2: Report of five families with a review of the literature. AJMG 65:309-316, 1996. [PubMed: 8923941]
McDonald-McGinn D M, LaRossa D, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Wang P, Solot C, Schultz P, Lynch D, Bingham P, Keenan G, Weinzimer S, Ming J E, Driscoll D, Clark B J, III, Markowitz R, Cohen A, Moshang T, Pasquariello P, Randall P, Emanuel B S, Zackai E H.: The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients. Genet. Testing 1:99-108, 1997. [PubMed: 10464633]
McDonald-McGinn D M, Minugh-Purvis N, Kirschner R E, Jawad A, Tonnesen M K, Ctanzaro J R, Goldmuntz E, Driscoll D, LaRossa D, Emanuel B S, Zacakai E H.: The 22q11.2 deletion in African-American patients: an underdiagnosed population? AJMG DOI=10.1002/ajmg.a.30069; 134A:242-246, 2005. [PMC free article: PMC2810968] [PubMed: 15754359]
McDonald-McGinn D M, Zackai E H, Low D.: What''s in a name? the 22q11.2 deletion. AJMG 72:247, 1997. [PubMed: 9382154]
Moss E M, Batshaw M L, Solot C B, Gerdes M, McDonald-McGinn D M, Driscoll D A, Emanuel B S, Zackai E H, Wang P P.: Psychoeducational profile of the 22q11.2 microdeletion: a complex pattern. J. Pediat. 134:193-198, 1999. [PubMed: 9931529]
Wulfsberg E A, Leana-Cox J, Neri G.: Reply to "What''s in a name? the 22q11.2 deletion". AJMG 72:248-249, 1997.
Moss et al (1999) studied 33 patients, aged 6 to 27 years. They recommend that educational programming for these children must address both verbal and nonverbal deficits.
Gerdes et al (1999) studied 40 children and strongly recommend early intervention services.
Kao et al found an association between generalized epilepsy and the patients entered in their registry of the DeGeorge syndrome.
McDonald-McGinn (2005) report under-representation of African-Americans in their group of 370 patients, as well as, the paucity of craniofacial dysmorphism in them.
The 1996 paper presents data on 12 individuals; and reviews information on 70 cases from the literature.
Aberration: Interstitial deletion
MIM#: 188400,192430
Chromosomal Aneuploidy: 22q-
Index Terms: Familial Di George/Velocardiofacial syndrome,Seizures,Epilepsy,African-American
Fernandez L, Lapunzina P, Arjona D, Lopez-Pajares I, Garcia-Guereta L, Elorza D, Burgueros M, De Torres M L, Mori M A, Palomares M, Garcia-Alix A, Delicado A.: Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome. Clin. Genet. 68:373-378; DOI=10.1111/j.1399-0004.2005.00493x, 2005. [PubMed: 16143025]
These authors confirm the efficiency of MLPA as a ''rapid, reliable, economical, high-throughput method for the diagnosis of 22q11.2 deletion syndrome''.
Aberration: Interstitial deletion
Chromosomal Aneuploidy: 22q-
Index Terms: Multiplex ligation-dependent probe amplification (MLPA),STR,FISH
Fokstuen S, Bottani A, Medeiros P F V, Antonarakis S E, Stoll C, Schinzel A.: Laryngeal atresia type III (Glottic web) with 22q11.2 microdeletion: report of three patients. AJMG 70:130-133, 1997. [PubMed: 9128930]
Marble M, Morava E, Tsien F, Amedee R, Pierce M.: Subglottic web in a mother and son with 22q11.2 deletion. AJMG 75:537, 1998. [PubMed: 9489801]
Marble et al support the notion that laryngeal web should lead to testing for 22q deletion.

Stoler J M, Ladoulis M, Holmes L B.: Anterior laryngeal webs and 22q11 deletions. AJMG 79:152, 1998. [PubMed: 9741474]
A microdeletion with the cosmid probe D22S502 (DO832) showed the deletion. It is suggested that laryngeal atresia represents an additional feature which should prompt investigation of 22q11.2 deletion.
Aberration: Interstitial deletion
Chromosomal Aneuploidy: 22q-
Index Terms: Laryngeal atresia type III (Glottic Web),Anterior laryngeal webs
Fokstuen S, Vrticka K, Riegel M, Da Silva V, Baumer A, Schinzel A.: Velofacial hypoplasia (Sedlackova syndrome): a variant of velocardiofacial (Shprintzen) syndrome and part of the phenotypical spectrum of del 22q11.2. Europ. J. Pediat. 160:54-57, 2001. [PubMed: 11195019]
20 Czech patients (14 females and 6 males) with Sedlackova syndrome were studied.
ish del(22)(q11.2)(D22S75-)
A common etiology for Sedlackova (velofacial hypoplasia) and Shprintzen (velocardiofacial) syndrome was proven by this study.
Aberration: Interstitial deletion
MIM#: 192430
Chromosomal Aneuploidy: 22q-
Index Terms: Sedlackova syndrome,Shprintzen syndrome,Velofacial hypoplasia,Velo-Cardio-Facial syndrome,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
Fryburg J S, Lin K Y, Golden W L.: Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome. AJMG 62:274-275, 1996. [PubMed: 8882786]
The patient was 14 months old.
46,XY,ish del(22)(q11.2 DGCR).
Oncor, Inc. probe was used to define the deletion with the characteristics of Opitz syndrome.
Aberration: Interstitial deletion
MIM#: 145410
Chromosomal Aneuploidy: 22q-
Index Terms: Opitz (G/BBB) syndrome
Negative band
Garcia-Minaur S, Fantes J, Murray R S, Porteous M E M, Strain L, Burns J E, Stephen J, Warner J P.: A novel atypical 22q11.2 distal deletion in father and son. J. Med. Genet. 39:e62, 2002. [PMC free article: PMC1734988] [PubMed: 12362044]
The patient and his father failed to show the deletion with the use of the commercial probe (N25) for DiGeorge syndrome. Signals for,PAC 353B13 and PAC 988B13 were deleted on one chromosome 22.
The child presented with tetralogy of Fallot.
Aberration: Interstitial deletion
Chromosomal Aneuploidy: 22q-
Same entry as in 08q241 (Godde-Salz et al, 1982).
Goodship J, Robson S C, Sturgiss S, Cross I E, Wright C.: Renal abnormalities on obstetric ultrasound as a presentation of DiGeorge syndrome. Prenat. Diag. 17:867-870, 1997. [PubMed: 9316132]
Three cases are presented.
Case 1:46,XX.ish del(22)(q11.2q11.2)(D22S75-).,Case 2:46,XY.ish del(22)(q11.2q11.2)(F5429-).,Case 3:46,XX.ish del(22)(q11.2q11.2)(C179-).
Aberration: Interstitial deletion
MIM#: 188400
Chromosomal Aneuploidy: 22q-
Index Terms: DGS renal abnormality
Same entry as in 04q352 (Greenberg et al, 1984).
Gripp K W, McDonald-McGinn D M, Driscoll D A, reed L A, Emanuel B S, Zackai E H.: Nasal dimple as part of the 22q11.2 deletion syndrome. AJMG 69:290-292, 1997. [PubMed: 9096759]
2 patients were presented.
Patient 1: 46,XX,ish del(22)(q11.2)(N25-).,Patient 2:46,XY,del(22)(q11.2)(N25-).
Dimpled nasal tip was present.
Aberration: Interstitial deletion
Chromosomal Aneuploidy: 22q-
Index Terms: Nasal dimple
Guze C, Qin N, Kelly JA, Yang X, Bruni R, Baker D, Hassan R.: Isochromosome 22 in trisomy 22 mosaic with five cell lines. AJMG DOI=10.1002/ajmg.a.20365; 124A:79-84, 2003 and 2004. [PubMed: 14679591]
Amnio=46,XY,i(22)(q10)[24].ish i(22)(TUPLE1++sep,ARSA++sep[9]/,46,XY,der(22)i(22)(q10)del(22)(q11.2q11.2)[19].ish der(22)(TUPLE1+,ARSA++sep)[37].,Blood (postnatal)=46,XY,der(22)i(22)(q10)del(22)(q11.2q11.2)[20].ish der(22)(TUPLE1+,ARSA++sep)[10].nuc ish 22q11.2(TUPLE1x2),22q13(ARSAx3)[100].,Umbilical cord tissue=ish i(22)(q10)(TUPLE1++sep,ARSA++sep)[43]/,ish der(22)i(22)(q10)del(22)(q11.2q11.2)(TUPLE1+,ARSA++sep)[47]/,ish r(22)(TUPLE1+,ARSA-,14/22cen+,ACRO p ARM-)[18]/,ish 22q11.2(TUPLE1x2),22q13(ARSAx2)[107]/,46,XY[107].,Placental tissue=
The newborn infant had MCA and died after 2 days.
Aberration: Isochromosome
Chromosomal Aneuploidy: 22q+
Hathout E H, Elmendorf E, Bartley J.: Hemifacial microsomia and abnormal chromosome 22. AJMG 76:71-73, 1998. [PubMed: 9508069]
46,XY,der(22)?dup(22)(q11.2q13.1)
The 4 year old patient shows growth deficiency, and the facioauriculovertebral sequence including hemifacial microsomia, cleft lip and palate, preauricular tags, and hearing loss.
Aberration: Duplication
MIM#: 164210
Chromosomal Aneuploidy: 22q+
Index Terms: Hemifacial microsomia,Facioauriculovertebral sequence
Same entry as in 01q210 (Hsu et al, 1996).
Huber J, Rainho C A, Gomes M V, Santos S A, Ramos E S.: Velocardiofacial syndrome with a rare t(2;22). Clin. Dysmorphol. 16: 181-183, 2007. [PubMed: 17551333]
45,XY,der(2)t(2;22)(q37;q11.2).ish der(2)t(2;22)(q37;q11.2)(D22S75-)dn.
The patient was 12 years old with VCFS.
Aberration: Reciprocal translocation
MIM#: 192430
Chromosomal Aneuploidy: 22q-
Index Terms: Velo-Cardio-Facial syndrome,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
Ing P S, Lubinsky M S, Smith S D, Golden E, Sanger W G, Duncan A M V: Cat-Eye syndrome with different marker chromosomes in a mother and daughter. AJMG 26:621-628, 1987. [PubMed: 3105314]
Mother was 31 years old at the time of birth of the patient; there was corneal grafting at age 7 years on her daugther.
46,XX,+mar(der22)iso-dic-inv-dup(22pter -> 22q112::22q112 -> 22pter).
Aberration: Dicentric chromosome
MIM#: 115470
Index Terms: Cat's eye syndrome
Negative band
Same entry as in 11q231 (Iselius et al, 1983).
Ito T, Okubo T, Sato H.: Familial 22q11.2 deletion: an infant with interrupted aortic arch and DiGeorge syndrome delivered from by a mother with tetralogy of Fallot. Europ. J. Pediat. 161:173-174, 2002. [PubMed: 11998920]
46,XX,der del(22)(q11.2)mat.
The infant, with DGS, died 6 days after surgery (for reconstruction of the aortic arch), because of severe pulmonary hypertension.
Aberration: Interstitial deletion
MIM#: 188400,187500
Chromosomal Aneuploidy: 22q-
Index Terms: Di George syndrome,Tetralogy of Fallot,Interrupted aortic arch,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
Same entry as in 06q251 (Jancar J and Karki C B, 1989).
Johnson M C, Hing A, Wood M K, Watson M S.: Chromosome abnormalities in congenital heart disease. AJMG 70:292-298, 1997. [PubMed: 9188669]
Johnson M C, Strauss A W, Dowton S B, Spray T L, Huddleston C B, Wood M K, Slaugh R A, Watson M S.: Deletion within chromosome 22 is common in patients with absent pulmonary valve syndrome. Am. J. Cardiol. 76:66-69, 1995. [PubMed: 7793407]
8 patients were studied (one reported earlier by Goldmuntz et al., 1993).
Patients 2 & possibly 5:del(22)(q11.21->q11.23). Others del(22)(q11.2).
Aberration: Interstitial deletion
Chromosomal Aneuploidy: 22q-
Index Terms: Pulmonary valve syndrome
Negative band
Keenan G F, Sullivan K E, McDonald-McGinn D M, Zackai E H.: Arthritis associated with deletion of 22q11.2: more common than previously suspected. AJMG 71:488, 1997. [PubMed: 9286462]
Aberration: Interstitial deletion
Index Terms: Arthritis
No band
Kerstjens-Frederikse W S, Kurahashi H, Driscoll D A, Budarf M L, Emanuel B S, Beatty B, Scheidl T, Siegel-Bartelt J, Henderson K, Cytrynbaum C, Nie G, Teshima I.: Microdeletion 22q11.2: clinical data and deletion size. J. Med. Genet. 36:721-723, 1999. [PMC free article: PMC1734429] [PubMed: 10507735]
Ninety cases were ascertained.
One patient=mos45,XY,der(6)t(6;22)(p25;q11.2)/,45,XY,der(6)t(6;22)(p25;q11.2),+f.,All others were either 46,XX or 46,XY with del(22)(q11.2).
Aberration: ID,ST
Chromosomal Aneuploidy: 22q-
Same entry as in 10q261 (Klever M et al, 1992).
Knoll J H M, Asamoah A, Pletcher B A, Wagstaff J.: Interstitial duplication of proximal 22q: phenotypic overlap with cat eye syndrome. AJMG 55:221-224, 1995. [PubMed: 7717422]
Patient S.K.:
46,XY,dup(22)(pter->q12::q11.2->qter).
At 4 years of age, the child showed myopia and no evidence of colobomas. He had downslanting palpebral fissures, preauricular malfunctions, CHD (total anomalous pulmonary venous return), unilateral absence of a kidney, and developmental delay.
Aberration: Interstitial deletion
MIM#: 115470
Chromosomal Aneuploidy: 22q+
Index Terms: Cat's eye syndrome
Negative band
Lacassie Y, Arriaza M I.: Opitz GBBB syndrome and the 22q11.2 deletion. AJMG 62:318, 1996. [PubMed: 8882795]
Lacassie and Arriaza report another case of Opitz GBBB phenotype and 46,XY,ish del(22)(q11.2).

McDonald-McGinn D M, Driscoll D A, Bason L, Christensen K, Lynch D, Sullivan K, Canning D, Zavod W, Quinn N, Rome J, Paris Y, Weinberg P, Clark B J III, Emanuel B S, Zackai E H. : Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion. AJMG 59: 103-113, 1995. [PubMed: 8849001]
McDonald-McGinn D M, Emanuel B S, Zackai E H.: Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion. AJMG 64:525-526, 1996. [PubMed: 8862635]
Robin N H, Opitz J M, Muenke M.: Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature. AJMG 62:305-317, 1996. [PubMed: 8882794]
Wulfsberg E A.: Is the autosomal dominant Opitz GBBB syndrome part of the DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2? AJMG 64:523-524, 1996. [PubMed: 8862634]
Three cases are presented.
The deletion may be present in some of these patients. It is about 1.5-2 megabases in size and does not differ from that seen in DGS syndrome.
Aberration: Interstitial deletion
MIM#: 145410
Chromosomal Aneuploidy: 22q-
Index Terms: Opitz GBBB syndrome
Negative band
Lazanakis M S, Rodgers K, Economides D L.: Increased nuchal translucency and CATCH 22. Prenat. Diag. 18:507-510, 1998. [PubMed: 9621387]
46,XX,del(22)(q11.2q11.2)(D22S75-).
The infant died post-op on the 5th day. The abnormalities were detected but worked-up after birth.
Aberration: Interstitial deletion
MIM#: 188400
Chromosomal Aneuploidy: 22q-
Index Terms: CATCH 22
Same entry as in 17q112 (Ledbetter D H et al, 1989).
Lidsay E A, Morris M A, Gos A, Nestadt G, Wolyniec P S, Lasseter V K, Shprintzen R, Antonarakis S E, Baldini A, Pulver A E.: Schizophrenia and chromosomal deletions with 22q11.2. AJHG 56:1502-1503, 1995. [PMC free article: PMC1801107] [PubMed: 7762575]
Since schizophrenia occurs in VCFS patients, 92 patients were screened with DNA probe sc11.1. 2 had the deletion.
Aberration: Interstitial deletion
MIM#: 192430,181510
Chromosomal Aneuploidy: 22q-
Index Terms: Schizophrenia,Velo-Cardio-Facial syndrome
Negative band
Lindsay E A, Greenberg F, Shaffer L G, Shapira S K, Scambler P J, Baldini A.: Submicroscopic deletions at 22q11.2: variability of the clinical picture and delineation of a commonly deleted region. AJMG 56:191-197, 1995. [PubMed: 7625444]
85 individuals referred with suspected diagnosis of DGA or VCFS.
Cosmid probes sc11.1, sc4.1 and F5 were used.
Aberration: Interstitial deletion
MIM#: 188400,192430
Chromosomal Aneuploidy: 22q-
Negative band
Lindsay E A, Rizzu P, Antonacci R, Jurecic V, Delmas-Mata J, Lee C C, Kim U J, Scambler P J, Baldini A.: A transcription map in the CATCH22 critical region: identification, mapping, and ordering of four novel transcripts expressed in heart. Genomics 32:104-112, 1996. [PubMed: 8786095]
Aberration: Interstitial deletion
MIM#: 188400,192430
Chromosomal Aneuploidy: 22q-
Index Terms: CATCH22 ... critical region
Negative band
Same entry as in 11q233 (Lockwood D H et al, 1989).
Same entry as in 0Yp113 (Lupski J R et al, 1991).
Maeda J, Yamagishi H, Matsuoka R, Ishihara J, Tokumura M, Fukushima H, Ueda H, Takahashi E, Yoshiba S, Kojima Y.: Frequent association of 22q11.2 deletion with tetralogy of Fallot. AJMG 92:269-272, 2000. [PubMed: 10842294]
Yamagishi H, Garg V, Matsuoka R, Thomas T, Srivastava D.: A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects. Science 283:1158-1161, 1999. [PubMed: 10024240]
Yamagishi H, Ishii C, Maeda J, Kojima Y, Matsuoka R, Kimura M, Takao A, Momma K, Matsuo N.: Phenotypic discordance in monozygotic twins with 22q11.2 deletion. AJMG 78:319-321, 1998. [PubMed: 9714432]
Twin 1: had facial appearance, tetralogy of Fallot, swallowing dysfunction, anal atresia, short stature and MR. Twin 2: had facial appearance but no other signs. The twins had twin-to-twin transfusion syndrome.
Yamagishi et al (1999) found that the human UFD1L gene was deleted in all 182 patients, therefore suggested ''that UFD1L haploinsufficiency contributes to the congenital heart and craniofacial defects seen in 22q11 deletion.''
Aberration: Interstitial deletion
MIM#: 187500,601754
Chromosomal Aneuploidy: 22q-
Index Terms: Twins MZ and 22q-,UFD1L,Tetralogy of Fallot
Marble M, Morava E, Lopez R, Pierce M, Pierce R: Report of a new patient with transposition of the great arteries with deletion of 22q11.2. AJMG 78:317-318, 1998. [PubMed: 9714431]
The infant had TGA, minor facial anomalies, normal T- and B-cell subsets, and transient hypocalcemia.
Aberration: Interstitial deletion
Chromosomal Aneuploidy: 22q-
Index Terms: Transposition of the great arteries (TGA)
Same entry as in 15q261 (Martin R H and Hulten M, 1993).
Matsuoka R, Takao A, Kimura M, Imamura S I, Kondo C, Joh-o K, Ikeda K, Nishibatake M, Ando M, Momma K.: Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2. AJMG 53:285-289, 1994. [PubMed: 7856665]
It is concluded that CTAFS (conotruncal anomaly face syndrome) is a part of the CATCH 22 syndrome (cardiac defect, abnormal faces, thymic hypoplasia, cleft palate, and hypocalcemia) resulting from 22q11.2 deletion.

Yagi H, Furutani Y, Hamada H, Sasaki T, Asakawa S, Minoshima S, Ichida F, Joo K, Kimura M, Imamura S-i, Kamatani N, Momma K, Takao A, Nakazawa M, Shimuzu N, Matsuoka R.: Role of TBX1 in human del22q11.2 syndrome. Lancet 362:1366-1373, 2003. [PubMed: 14585638]
Aberration: Interstitial deletion
MIM#: 121015,188400
Chromosomal Aneuploidy: 22q-
Index Terms: Conotruncal anomaly face syndrome,TBX1
McQuade L, Christodoulou J, Budarf M, Sachdev R, Wilson M, Emanuel B, Colley A.: Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR). AJMG 86:27-33, 1999. [PubMed: 10440825]
Patient CA:
46,XY,del(22).ish(TBX1-,COMT-)
The patient was 19 years old, referred for evaluation of cleft palate,and a partial VCFS phenotype.
Aberration: Interstitial deletion
MIM#: 192430,188400
Chromosomal Aneuploidy: 22q-
Index Terms: Minimal DiGeorge Syndrome critical region (MDGCR)
McTaggart K E, Budarf M L, Driscoll D A, Emanuel B S, Ferreira P, McDermid H E.: Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints. Cytogenet. Cell Genet. 81:222-228, 1998. [PubMed: 9730608]
Mears A J, Duncan A M V, Budarf M L, Emanuel B S, Sellinger B, Siegel-Bartelt J, Greenberg C R, McDermid H E: Molecular characterization of the marker chromosome associated with cat eye syndrome. AJHG 55:134-142, 1994. [PMC free article: PMC1918240] [PubMed: 7912885]
10 cases of CES were studied.
The distal boundary of the CES region (D22S36) is proximal to that of DiGeorge syndrome.
MIM#: 115470
Index Terms: Cat eye syndrome
Negative band
Mears A J, El-Shanti H, Murray J C, McDermid H E, Patil S R.: Minute supernumerary ring chromosome 22 associated with cat eye syndrome: further delineation of the critical region. AJHG 57:667-673, 1995. [PMC free article: PMC1801256] [PubMed: 7668296]
Three generations of a family were studied.
47,XY,+r(22)
The proband had the CES characteristics but the father and the grandfather were phenotypically normal.
Aberration: Ring chromosome
MIM#: 115470
Chromosomal Aneuploidy: 22q+
Index Terms: Cat Eye syndrome
Negative band
Meins M, Burfeind P, Motsch S, Trappe R, Bartmus D, Langer S, Speicher M R, Muhlendyck H, Bartels I, Zoll B.: Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome. J. Med. Genet. 40:e62, 2003. [PMC free article: PMC1735484] [PubMed: 12746416]
47,XY,+idic(22)(pter->q11.2::q11.2->pter).
Aberration: Duplication
Chromosomal Aneuploidy: 22q+
Index Terms: Cat-eye-syndrome (CES)
Same entry as in 16p133 (Miller et al, 1984).
Same entry as in 11q230 (Najafzadeh and Dumars, 1981).
Same entry as in 0Xp213 (Pinto M R et al, 1989).
Same entry as in 09q220 (Pivnick et al, 1990).
Prasher V P, Roberts E, Norman A, Butler A C, Krishnan V H R, McMullan D J.: Partial trisomy 22 (q11.2-q13.1) as a result of duplication and pericentric inversion. J. Med. Genet. 32:306-308, 1995. [PMC free article: PMC1050382] [PubMed: 7643363]
46,XY,dup(22)(q11.2->q13.1),inv(22)(p13q11.2)de novo.
Patient was 27 years old with learning disability, lack of daily living skills, colobomata, and very poor vision.
Aberration: DU,PI
MIM#: 120200
Chromosomal Aneuploidy: 22q+
Index Terms: Coloboma
Negative band
Rauch A, Hofbeck M, Leipold G, Trautmann U, Kirsch M, Singer H, Pfeiffer R A.: Incidence and significance of 22q11.2 hemizygosity in patients with interrupted aortic arch. AJMG 78:322-331, 1998. [PubMed: 9714433]
15 patients with IAA were studied.
In 9/11 with IAA type B, hemizygosity was demonstrated.
FISH with D22S75, Tuple 1, and cHKAD26 and a set of 10 STRP markers was performed.
Aberration: Interstitial deletion
MIM#: 107550
Chromosomal Aneuploidy: 22q-
Index Terms: Interrupted aortic arch
Rauch A, Pfeiffer R A, Leipold G, Singer H, Tigges M, Hofbeck M.: A novel 22q11.2 microdeletion in DiGeorge syndrome. AJHG 64:659-667, 1999. [PMC free article: PMC1377781] [PubMed: 9973528]
Aberration: Interstitial deletion
MIM#: 188400
Chromosomal Aneuploidy: 22q-
Index Terms: Di George syndrome,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
Rauch A, Zink S, Zweier C, Thiel C T, Koch A, Rauch R, Lascorz J, Huffmeier U, Weyand M, Singer H, Hofbeck M.: Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2. J. Med. Genet. 42:871-876, 2005. [PMC free article: PMC1735953] [PubMed: 15831592]
Patients with conotruncal heart defects (ctCHD) and with typical VCFS phenotype showed the common 3 Mb or nested 1.5 Mb deletions (in 18.5% and 78%, respectively), but no atypical deletion, while 5% (3/63) of patients with a mildly suggestive, atypical phenotype showed atypical distal deletions, which were not detected in patients with MR of unkown origin or in healthy controls.
Aberration: Interstitial deletion
Chromosomal Aneuploidy: 22q-
Ravnan J B, Chen E, Golabi M, Lebo R V.: Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations. AJMG 66:250-256, 1996. [PubMed: 8985481]
31/100 patients showed the deletion. Retrospective FISH analysis detected deletions in 6/14 patients.
DGCR probe (Oncor) was used. Four patients had other chromosome abnormalities.
Aberration: Interstitial deletion
MIM#: 192430,188400
Chromosomal Aneuploidy: 22q-
Index Terms: Velo-Cardio-Facial syndrome
Negative band
Same entry as in 22q111 (Reiss et al, 1985).
Saitta S C, Harris S E, Gaeth A P, Driscoll D A, McDonald-McGinn D M, Maisenbacher M K, Yersak J M, Chakraborty P K, Hacker A M, Zackai E H, Ashley T, Emanuel B S. : Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion. Hum. Mol. Genet. 13:417-428, 2004. [PMC free article: PMC2836129] [PubMed: 14681306]
Saitta S C, Harris S E, McDonald-McGinn D M, Emanuel B S, Tonnesen M K, Zackai E H, Seitz S C, Driscoll D A.: Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndrome. AJMG DOI=10.1002/ajmg.a.20421, 2003. [PMC free article: PMC2811370] [PubMed: 14708107]
Saitta S C, McGrath J M, Mensch H, Shaikh T H, Zackai E H, Emanuel B S.: A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects. AJHG 65:562-566, 1999. [PMC free article: PMC1377955] [PubMed: 10417299]
Patient CH98-18:
46,XY,del(22)(q11.2).ish(cos11E6-,D22S801-)
At 26 months of age, he had short stature, microcephaly, a prominent glabella, partially attached earlobes, a broad nasal bridge, a broad nasal tip with crease, hypoplastic nasal alae, anteverted nares, a featureless philtrum, a down-turned mouth, a bifid uvula, and normal hearing and vision.
Aberration: Interstitial deletion
MIM#: 188400,192430
Chromosomal Aneuploidy: 22q-
Sandrin-Garcia P, Macedo C, Martelli L R, Ramos E S, Guion-Almeida M L, Richieri-Costa A, Passos G A S.: Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome. Clin. Genet. 61:380-383, 2002. [PubMed: 12081724]
Patient DGC, born in 1977, and his sister.
46,XX or XY,del(22)(q11.2)mat.ish (D22S941-)
Aberration: Interstitial deletion
MIM#: 192430
Chromosomal Aneuploidy: 22q-
Index Terms: VCF syndrome
Same entry as in 06p250 (Scarbrough et al, 1986).
Same entry as in 04p152 (Schinzel A A and D'Apuzzo V, 1990).
Seaver L H, Pierpont J W, Erickson R P, Donnerstein R L, Cassidy S B.: Pulmonary atresia associated with maternal 22q11.2 deletion: possible parent of origin effect in the conotruncal anomaly face syndrome. J. Med. Genet. 31:830-834, 1994. [PMC free article: PMC1016653] [PubMed: 7853364]
Aberration: Interstitial deletion
Chromosomal Aneuploidy: 22q-
Index Terms: Pulmonary atresia, Conotruncal anomaly face syndrome
Negative band
Same entry as in 11q233 (Simi P et al, 1992).
Singh S M, Murphy B, O''Reilly R.: Monozygotic twins with chromosome 22q11 deletion and discordant phenotypes: updates with an epigenetic hypothesis. J. Med. Genet. 39:e71-e71, 2002. [PMC free article: PMC1735014] [PubMed: 12414833]
Data on 5 twin pairs are presented.
Aberration: Interstitial deletion
MIM#: 187500,188400,192430
Chromosomal Aneuploidy: 22q-
Index Terms: Tetralogy of Fallot,Velo-Cardio-Facial syndrome,DGS ,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
Smith A, St. Heaps L, Robson L.: Apparently unrelated cytogenetic abnormalities among 462 probands referred for the detection of del(22q) by FISH. AJMG 113:346-350, 2002. [PubMed: 12457406]
No. 2=46,XX,-15,+der(22)t(15;22)(q15;q12)[25]pat
The 3 year old had dysmorphic features, PWS locus was deleted.
No. 6=45,XX,der(17)t(17;22)(p13;q11.2),-22[15]de novo
The 2 year old had tetralogy of Fallot, 22q delted, Miller-Diecker locus not deleted.
Aberration: Interstitial deletion
Chromosomal Aneuploidy: 22q-;22q+
Spiteri E, Babcock M, Kashork C D, Wakui K, Gogineni S, Lewis D A, Williams K M, Minoshima S, Sasaki T, Shimizu N, Potocki L, Pulijaal V, Shanske A, Shaffer L G, Morrow B E.: Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes. Hum. Mol. Genet. 12:1823-1837, 2003. [PubMed: 12874103]
Aberration: Reciprocal translocation
Tharapel A T, Kadandale J S, Martens P R, Wachtel S S, Wilroy R S, Jr.: Prader Willi/Angelman and DiGeorge/velocardiofacial syndrome deletions: diagnosis by primed in situ labeling (PRINS). AJMG DOI=10.1002/ajmg.10106;107:119-122, 2002. [PubMed: 11807885]
10 patients were studied.
Aberration: Interstitial deletion
MIM#: 192430,188400
Chromosomal Aneuploidy: 22q-
Index Terms: PRINS,DGS
No band
Tibiletti M G, Sala E, Colombo D, Arlati S, Varisco T, La Placa G.: Chromosome 22 marker in a child with Duane syndrome and urogenital abnormalities. Ann. Genet. 39:168-172, 1996. [PubMed: 8839890]
47,XY,+der(22)(D22Z1,p190.22x1)
The patient at 25 months had psychomotor developmental retardation, renal, eye and other anomalies.
MIM#: 126800
Chromosomal Aneuploidy: 22q+
Index Terms: Duane syndrome,urogenital abnormalit(ies)
Negative band
Same entry as in 01p220,01q420 (Warburton D, 1991).
Same entry as in 14q240 (Warburton D, 1991).
Weinzimer S A, McDonald-McGinn D M, Driscoll D A, Emanuel B S, Zacakai E H, Moshang T, Jr.: Growth hormone deficiency in patients with a 22q11.2 deletion: expanding the phenotype. Pediatrics 101:929-932, 1998. [PubMed: 9565428]
Foue patients are presented.
46,XX and XY,del(22)(q11.2q11.2)
They had short stature and failed provocative growth hormone testing.
Aberration: Interstitial deletion
Chromosomal Aneuploidy: 22q-
Index Terms: Growth hormone deficiency
Yobb T M, Somerville M J, Willatt L, Firth H V, Harrison K, MacKenzie J, Gallo N, Morrow B E, Shaffer L G, Babcock M, Chernos J, Bernier F, Sprysak K, Christiansen J, Haase S, Elyas B, Lilley M, Bamforth S, McDermid H E.: Microduplication and triplication of 22q11.2: a highly variable syndrome. AJHG 0002-9297/2005/7605-00XX; 76:865-876, 2005. [PMC free article: PMC1199375] [PubMed: 15800846]
Patients 1, 2, 3, and 5 were shown to have three copies of HIRA and COMT, indicating a microduplication. Patient 4 had four copies of HIRA and COMT, confirming a triplication of 22q11.2 region. The mother of patient 4 was found to have 3 copies of 22q11.2, indicating an expansion of the region from 3 to 4 copies between mother and child.
Aberration: DU,TRIPLICATION
Chromosomal Aneuploidy: 22q+
Index Terms: Triplication

Bookshelf ID: NBK105484

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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-. 22q112.

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22q112 - Chromosomal Variation in Man
22q112 - Chromosomal Variation in Man
Homo sapiens BRF1 general transcription factor IIIB subunit (BRF1), transcript v...
Homo sapiens BRF1 general transcription factor IIIB subunit (BRF1), transcript variant 3, mRNA
gi|1890267681|ref|NM_145685.3|
Nucleotide

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Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

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