11q233

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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11q233

11q23.3

Same entry as in 01q321 (Youings et al, 2003).
Same entry as in 04q320 (Byatt et al, 1997).
Same entry as in 08q243 (Ounap et al, 2002).
Same entry as in 11p153 (Stratakis et al, 2001).
Same entry as in 11q142 (Ono et al, 1996).
Same entry as in 02q373 (Al Gazali L I and Quaife R, 1993).
Aurias A, Prieur M, Dutrillaux B, Lejeune J: Systematic analysis of 95 reciprocal translocations of autosomes. Hum. Genet. 45:259-282, 1978. [PubMed: 738728]
Patient I.P. No. 18654 in this report.
46,XY,t(11;22)(q233;q112).&"46,XY,t(11;22)(11pter -> 11q233::22q112 -> 22qter;22pter -> 22q112::11q233 -> 11qter)."
Aberration: Reciprocal translocation
Negative band
Babu K A, Verma R S, Nigam R B, Alsheikh S N: Precise location of breakpoints in a frequent reciprocal translocation between chromosomes 11 and 22. J. Hered. 77:63-64, 1986. [PubMed: 3958482]
Mother: 46,XX,t(11;22)(q233;q111).&"Patient: 47,XX,+der(22)t(11;22)(22pter -> 22q111::11q233 -> 11qter)mat."
Aberration: Reciprocal translocation
Negative band
Dawson A J, Mears A J, Chudley A E, Bech-Hansen T, McDermid H.: Der(22)t(11;22) resulting from a paternal de novo translocation, adjacent 1 segregation, and maternal heterodisomy 22. J. Med. Genet. 33:952-956, 1996. [PMC free article: PMC1050791] [PubMed: 8950677]
The patient is now 8 years old and was diagnosed at birth and followed since then.
47,XX,+der(22)t(11;22)(q23.3;q11.2).
The patient is moderately retarded and had several dysmorphic features.
The analysis was performed using RFLPs, D22S94, D22S45 which showed the paternal and maternal errors.
Aberration: Simple translocation
Chromosomal Aneuploidy: 22q+
Negative band
Delobel B, Delannoy V, Pini G, Zapella M, Tardieu M, Vallee L, Croquette M F.: Identification and molecular characterization of a small 11q23.3 de novo duplication in a patient with Rett syndrome manifestations. AJMG 80:273-280, 1998. [PubMed: 9843053]
46,XX,dup(11)(q23.3->q24.?)
The 19 year old was part of a systematic cytogenetic study of all cases (n=28) diagnosed with Rett syndrome.
Aberration: Duplication
MIM#: 312750
Chromosomal Aneuploidy: 11q+
Index Terms: Rett syndrome manifestations
Dufke A, Leipoldt M, Enders H.: Chromosomal mosaicism in familial reciprocal translocation carriers: necessity of karyotyping different tissues. AJMG DOI=10.1002/ajmg.a.20288, 2003. [PubMed: 12923876]
Kulharya A S, Lovell C M, Flannery D B.: Unusual mosaic karyotype resulting from adjacent 1 segregation of t(11;22): Importance of performing skin fibroblast karyotype in patients with unexplained multiple congenital anomalies. AJMG DOI=10.1002/ajmg.10801; 113:367-370, 2002. [PubMed: 12457409]
Blood=46,XY[200 cells].,Skin fibroblasts=47,XX,+der(22)t(11;22)(q23;q11.2)mat[7]/46,XY[143].
The patient was 26 years old with mild to moderate MR.
Aberration: Reciprocal translocation
Chromosomal Aneuploidy: 11q+;22q-
Same entry as in 11p142 (Forsythe M G et al, 1988).
Grossfeld P D, Mattina T, Lai Z, Favier R, Jones K L, Cotter F, Jones C, the 11q Consortium.: The 11q terminal deletion disorder: A propsective study of 110 cases. AJMG DOI=10.1002/ajmg.a.30090, 2004. [PubMed: 15266616]
Jones C, Mullenbach R, Groosfeld P, Auer R, Favier R, Chien K, James M, Tunnacliffe A, Cotter F.: Co-localisation of CCG repeats and chromosome deletion breakpoints in Jacobsen syndrome: evidence for a common mechanism of chromosome breakage. Hum. Mol. Genet. 9:1201-1208, 2000. [PubMed: 10767345]
Jones C, Penny L, Mattina T, Yu S, Baker E, Voullaire L, Langdon W Y, Sutherland G R, Richards R I, Tunnacliffe A.: Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2. Nature 376:145-149, 1995. [PubMed: 7603564]
The fragile site FRA11B was localized to the p(CCG)n repeat of the CBL2 proto-oncogene.

Penny L A, Dell''Aquila M, Jones M C, Bergoffen J A, Cunniff C, Fryns J P, Grace E, Graham J M, Jr, Kousseff B, Mattina T, Syme J, Voullaire L, Zelante L, Zenger-Hain J, Jones O W, Evans G A.: Clinical and molecular characterization of patients with distal 11q deletions. AJHG 56:676-683, 1995. [PMC free article: PMC1801184] [PubMed: 7887422]
Voullaire L E, Webb G C, Leversha M A: Chromosome deletion at 11q23 in an abnormal child from a family with inherited fragility at 11q23. Hum. Genet. 76:202-204, 1987. [PubMed: 3610150]
In the 2004 study, the authors found that 94% of the 110 patients, had Paris-Trousseau syndrome characterized by thrombocytopenia and platelet dysfunction. 56% had CHD. These authors have provided recommendations for the management of patients.
46,XX,fra(11)(q233).&46,XY,del(11)(q233).
Aberration: TD,FS
MIM#: 147791,600588
Chromosomal Aneuploidy: 11q-
Index Terms: Paris-Trousseau syndrome,Jacobsen syndrome
Negative band
Gutmann D H: Chromosome 11q23.3-qter deletion and Alexander disease. AJMG 39:226, 1991. [PubMed: 2063930]
Wardinsky T D, Pagon R A, Weinberger E, Clarren S K: Response to Dr. David Gutmann. AJMG 39:227, 1991.
Wardinsky T D, Weinberger E, Pagon R A, Clarren S K, Thuline H C: Partial deletion of the long arm of chromosome 11 \del(11)(q23.3 to qter)\ with abnormal white matter. AJMG 35:60-63, 1990. [PubMed: 2301470]
46,XX,del(11)(pter -> q23.3:)de novo.
Aberration: Terminal deletion
MIM#: 203450
Chromosomal Aneuploidy: 11q-
Negative band
Hausmann C, Back E, Wolff G, Voiculescu I: Deletion 11q23.3 without familial predisposition. Hum. Genet. 80:205, 1988. [PubMed: 3169750]
46,XY,del(11)(q233).
Patient was newborn with multiple congenital anomalies.
Aberration: Terminal deletion
Chromosomal Aneuploidy: 11q-
Negative band
Same entry as in 05q240 (Hustinx R et al, 1993).
Kadir R A, Hastings R, Economides D L.: Prenatal diagnosis of supernumerary chromosome derivative (22) due to maternal balanced translocation in association with diaphragmatic hernia: a case report. Prenat. Diag. 17:761-764, 1997. [PubMed: 9267900]
Mother=46,XX,t(11;22)(q23.3;q11.2).,Fetus=47,XX,+der(22)t(11;22)(q23.3;q11.2)mat.
An abnormal ultrasound examination revealed the hernia, IUGR, and PUBS karyotype confirmed the diagnosis. Pregnancy was terminated.
Aberration: Reciprocal translocation
Chromosomal Aneuploidy: 11q+;22q+
Index Terms: Hernia diaphragmatic
Kuster W, Gebauer H J, Majewski F, Lenard H G: Report of a deletion 11 (qter to q23.3) and short review of the literature. Europ. J. Ped. 144:286-288, 1985. [PubMed: 4054171]
Patient C.F.
46,XY,del(11)(q23.3:).
Aberration: Terminal deletion
Negative band
Lindenbaum R H: "Unusual segregation of constitutional 11q;22q translocation may be explained by crossover in interchange segment, followed by 3:1 segregation at meiosis I." Hum. Genet. 85:143, 1990. [PubMed: 2358300]
Comment on the paper by Lockwood et al (1989).
Negative band
Lockwood D H, Farrier A, Hecht F, Allanson J E: "Not all chromosome imbalance resulting from the 11q;22q translocation is due to 3:1 segragation in first meiosis." Hum. Genet. 83:287:288, 1989. [PubMed: 2793173]
Proband:47,XY,t(11;22)(q23.3;q11.2),+der(22)t(11;22)(q23.3;q11.2)pat.
Aberration: Reciprocal translocation
Negative band
Same entry as in 02p210 (Lurie et al, 1995).
Michaelis R C, Velagaleti G V N, Jones C, Pivnick E K, Phelan M C, Boyd E, Tarleton J, Wilroy R S, Tunnacliffe A, Tharapel A T.: Most Jacobsen syndrome deletion breakpoints occur distal to FRA11B. AJMG 76:222-228, 1998. [PubMed: 9508241]
Pivnick E K, Velagaleti G V N, Wilroy R S, Smith M E, Rose S R, Tipton R E, Tharapel A T.: Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases. J. Med. Genet. 33:772-778, 1996. [PMC free article: PMC1050734] [PubMed: 8880580]
46,XX,del(11)(q23q25)de novo.
The proband was 11 months old with hypertelorism, telecanthus, and downward slanting palpebral fissures, trigonocephaly, growth retardation, bilateral inferior colobomas (of the iris, choroid, and retina), hydrocephalus and CNS abnormalities.
Aberration: Interstitial deletion
MIM#: 147791
Chromosomal Aneuploidy: 11q-
Index Terms: Jacobsen syndrome
Negative band
Same entry as in 11q210 (Miller K et al, 1989).
Noir A, Leroux M, Bresson J L, Menget A, Burguet A, Raffi A: La trisomie 11q: a propos de deux cas. Pediatrie 42:441-444, 1987. [PubMed: 3438103]
Patient Claude G., 231083, presented with congenital anomalies and ambiguous genitalia.
47,XY,+der(22),t(11;22)(22pter -> 22q11::11q233 -> 11qter)mat.
Aberration: Reciprocal translocation
Chromosomal Aneuploidy: 11q+
Index Terms: Genitalia ... ambiguous
Negative band
Same entry as in 11q230 (Ono J et al, 1994).
Penny L A, Dell''Aquila M, Jones M C, Bergoffen J A, Cunniff C, Fryns J P, Grace E, Graham J M, Jr, Kousseff B, Mattina T, Syme J, Voullaire L, Zelante L, Zenger-Hain J, Jones O W, Evans G A.: Clinical and molecular characterization of patients with distal 11q deletions. AJHG 56:676-683, 1995. [PMC free article: PMC1801184] [PubMed: 7887422]
17 patients were evaluated.
46,XX and XY,del(11)(q23.3->qter).
Typical features of Jacobsen syndrome include mild to moderate psychomotor retardation, trigonocephaly, facial dysmorphism, cardiac defects and thrombocytopenia.
If hemizygosity for a single gene is responsible for trigonocephaly, then the gene may lie distal to D11S1345 and proximal to D11S912.
Aberration: Terminal deletion
MIM#: 147791
Chromosomal Aneuploidy: 11q-
Index Terms: Jacobsen syndrome
Negative band
Pettenati M J, Teot L A, Smith C, Hayworth R, Thomas I T, Veille J C, Rao P N: Unbalanced mosaic karyotypes with different structural abnormalities involving a common chromosome region: report of two cases. AJMG 45:365-369, 1993. [PubMed: 8434625]
Patient 1.
Amniotic fluid, cvs, and facia- mos46,XX,del(11)(q23.3)\8\/46,XX,-11,+der(11)t(11;?)(q23.3;?)\12\.&Blood-46,XX,del(11)(q23.3).
Ultrasound examination showed multiple anomalies and pregnancy was terminated.
Aberration: TD,ST
Negative band
Same entry as in 11q210 (Raimondi et al, 1983).
Simi P, Ceccarelli M, Barachini A, Floridia G, Zuffardi O: "The unbalanced offspring of the male carriers of the 11q;22q translocation: nondisjunction at meiosis II in a balanced spermatocyte." Hum. Genet. 88:482-483, 1992. [PubMed: 1740326]
Proband F.S.
47,XY,t(11;22)(q23.3;q11.2),+der(22)t(11;22)(q23.3;q11.2)pat.
Aberration: Reciprocal translocation
Chromosomal Aneuploidy: 11q+,22q+
Index Terms: Spermatocyte
Negative band
Tengstrom C, Autio S: Chromosomal aberrations in 85 mentally retarded patients examined by high resolution banding. Clin. Genet. 31:53-60, 1987. [PubMed: 3568434]
Patient M.H. was 19 years old with short stature, anomalous skull, hands and feet, dysmorphic face.
46,XX,del(11)(q23.3)de novo.
Aberration: Terminal deletion
Chromosomal Aneuploidy: 11q-
Index Terms: Facial dysmorphism,Foot ... anomalies,Hand ... anomalies,Stature ... short (low)
Negative band
Toyoshima M, Yonee C, Maegaki Y, Yamamoto T, Shimojima K, Maruyama S, Kawano Y.: Vertebral fusion in a patient with supernumerary-der(22)t(11;22) syndrome. AJMG Part A: DOI=10.1002/ajmg.a.32762, 2009. [PubMed: 19353589]
47,XY,+der(22)t(11;22)(q23.3;q11.2)
The 16 year old was being evaluated for epileptic seizures. Her DQ was 17 at the age of 5.2 years.
Aberration: Reciprocal translocation
MIM#: 609029
Chromosomal Aneuploidy: 11q+;22q+
Index Terms: SMC,Vertebral fusion
Uto H, Shigeto M, Tanaka H, Uchida H, Ohnishi Y, Nishimura M.: A case of 11q- syndrome associated with abnormalities of the retinal vessels. Ophthalmologica 208:233-236, 1994. [PubMed: 7970555]
46,XX,del(11)(q23.3)
The 6 month-old was referred because of poor vision. Her face showed hypertelorism, bilateral epicanthus, antimongoloid slant, blepharoptosis and exotropia.
Aberration: Terminal deletion
Chromosomal Aneuploidy: 11q-
Index Terms: Exotropia
Verdier G, Godet J, Philip T, Parchoud B, David M, Guibaud P, Robert J M: Possible localization of Human B globin gene on the q23 region of chromosome 11. J. Genet. Hum. 27:71-75, 1979. [PubMed: 479856]
46,XX,del(11)(q23.3 -> qter).&46,XX,del(11)(pter -> q23.3:).
Aberration: Terminal deletion
Negative band
Warburton D: De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. AJHG 49:995-1013, 1991. [PMC free article: PMC1683246] [PubMed: 1928105]
46,XY,t(11;21)(q23.3;q21.2).
Aberration: Reciprocal translocation
Negative band
Zhao H-q, Rope A F, Saal H M, Blough-Pfau R I, Hopkin R J.: Upper airway malformation associated with partial trisomy 11q. AJMG DOI=10.1002/ajmg.a.20134, 2003. [PubMed: 12838551]
Patient 1:
46,XY,der(5)t(5;11)(q35.3;q23.3)pat.
Patient was 28 months old with MCA and severe developmental delay.
Aberration: Reciprocal translocation
Chromosomal Aneuploidy: 5q-;11q+

Bookshelf ID: NBK105595

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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-. 11q233.

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

11q233

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