- Al-Gazali L I, Mueller R F, Caine A, Antoniou, McCartney A, Fitchett M, Dennis N R: "Two 46,X,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3." J. Med. Genet. 27:59-63, 1990. [PMC free article: PMC1016884] [PubMed: 2308157]
James R S, Coppin B, Dalton P, Dennis N R, Mitchell C, Sharp A J, Skuse D H, Thomas N S, Jacobs P A.: A study of females with deletions of the short arm of the X chromosome. Hum. Genet. 102:507-516, 1998. [PubMed: 9654198]Cases 1 and 2.46,X,t(X;Y)(p22.3;q11.2).Aberration: Simple translocationIndex Terms: Congenital microphthalmia,Linear skin defectsNegative band - Ballabio A, Carrozzo R, Gil A, Gillard B, Affara N A, Ferguson-Smith M A, Fraser N, Craig I, Rocchi M, Romeo G, Andria G: Molecular characterization of human X/Y translocations suggests their aetiology through aberrant exchange between homologous sequences on Xp and Yq. Ann. Hum. Genet. 53:9-14, 1989. [PubMed: 2729897]
Sargent C A, Briggs H, Chalmers I J, Lambson B, Walker E, Affara N A.: The sequence organization of Yp/proximal Xq homologous regions of the human sex chromosomes is highly conserved. Genomics 32:200-209, 1996. [PubMed: 8833146]Also see Bardoni et al., (1991) under 0Yq110.Aberration: Reciprocal translocationNegative band - Baralle D, Willatt L R, Shears D J.: L+¬ri-Weill syndrome associated with a pseudodicentric X;Y translocation chromosome and skewed X-inactivation: implications for genetic counselling. AJMG 95:391-395, 2000. [PubMed: 11186896]46,X,t(X:Y)(Xqter->Xp22.3::Yp11.2->Yqter)de novo.The patient was 14 years old with short stature and Madelung deformity.Aberration: Dicentric chromosomeMIM#: 127300Index Terms: Léri-Weill syndrome, Madelung deformityNo band
- Barnes I C S, Curtis D J, Duncan S L B: An isodicentric X chromosome with short arm fusion in a woman without somatic features of Turner''s syndrome. J. Med. Genet. 24:428-431, 1987. [PMC free article: PMC1050152] [PubMed: 3612719]Patient was 25 years old with gonadal dysgenesis.mos45,X/46,X,idic(X)(p22.3).&Mother: mos46,XX(15%)/47,XXX(85%).Aberration: Dicentric chromosomeIndex Terms: Gonadal dysgenesis,Turner syndromeNegative band
- Bettio D, Rizzi N, Giardino D.: Familial translocation (X;3)(p22.3;p23): chromosomal in situ suppression (CISS) hybridization and inactivation pattern study. Clin. Genet. 46:360-363, 1994. [PubMed: 7889646]
Garcia-Heras J.: Familial translocation (X;3)(p22.3;p23): chromosomal in situ suppression (CISS) hybridization and inactivation pattern study. J. Med. Genet. 50:270-271, 1996. [PubMed: 9001816]An alternative explanation has been proposed by Garcia-Heras in this letter.The newborn was referred because of slight hypotonia, epicanthic fold, tetralogy of Fallot.46,X,der(X)t(X;3)(Xqter->Xp22.3::3p23->3pter)mat.The patient died after surgucal complications at 11 months.Aberration: Simple translocationChromosomal Aneuploidy: Xp-, 3p+Index Terms: CISSNegative band - Bick D, Franco B, Sherins R J, Heye B, Pike L, Crawford J, Maddalena A, Incerti B, Pragliola A, Meitinger T, Ballabio A: Intragenic deletion of the KALIG-1 gene in Kallmann''s syndrome. NEJM 326:1752-1755, 1992. [PubMed: 1594017]
Franco B, Guioli S, Pragliola A, Incerti B, Bardoni B, Tonlorenzi R, Carrozzo R, Maestrini E, Pieretti M, Taillon-Miller P, Brown C J, Willard H F, Lawrence C, Persico M G, Camerino G, Ballabio A: A gene deleted in Kallmann''s syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature 353:529-536, 1991. [PubMed: 1922361]
Guioli S, Incerti B, Zanaria E, Bardoni B, Franco B, Taylor K, Ballabio A, Camerino G: Kallmann syndrome due to a translocation resulting in an X/Y fusion gene. Nature Genet. 1:337-40, 1992. [PubMed: 1302031]Patient A.M.t(X;Y).Patient is affected with Kallmann syndrome.Patient M.S.t(X;Y).Patient is not affected with the K.S.KALIG-1 gene has a homolog on the Y, escapes X inactivation. The K.S. may be the first example of a human neuronal migration defect for which the gene has been identified.,KALIG-1 gene is the X-linked gene for Kallmann syndrome.Aberration: ST,IDMIM#: 308700Index Terms: Kallmann syndromeNegative band - Boycott K M, Parslow M I, Ross J L, Miller I P, Torben Bech-Hansen N, MacLeod P M.: A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHD. AJHG DOI=10.1002/ajmg.a.20231; 122A:139-147, 2003. [PubMed: 12955766]Mother=46,X,del(X)(p22.3).,Her two sons=46,Y,der del(X)(p22.3)mat.Both sons were short in stature and showed mild to moderate skeletal abnormalities. The younger son had severe learning disabilties and both had ADHD. The older son tested in the mild mental retardation range. The mother''s stature was greater than one standard deviation below her target height and she had only subtle radiographic evidence of Madelung deformity.The breakpoint was localized to a region between DXS6837 and sAJ243947 in Xp22.33. The two boys showed deletion for SHOX and ARSE genes. The VCX-A gene was present in both boys.Aberration: Terminal deletionChromosomal Aneuploidy: Xp-
- Calabrese G, Fischetto R, Stuppia L, Capodiferro F, Mingarelli R, Causio F, Rocchi M, Rappold G A, Palka G.: X/Y translocation in a family with Leri-Weill dyschondrosteosis. Hum. Genet. 105:367-368, 1999. [PubMed: 10543407]Patient C.A. was 7 years old.46,Y,-X,+der(X),t(X;Y)(p22.3;q11)mat.Both the mother and the proband were disgnosed as having LWD.Aberration: Simple translocationMIM#: 127300Chromosomal Aneuploidy: Xp-Index Terms: Leri-Weill dyschondrosteosis
- Cheng S D, Gasparini R, Muller U: Molecular analysis of aberrations of Xp and Yq. Hum. Genet. 88:379-382, 1992. [PubMed: 1740314]Case 3 (DI).46,X,t(X;Y)(p22.3;q11.2)de novo.Pregnancy was continued and the child was a normal female.Aberration: Simple translocationNegative band
- Fitzgerald P H, Donald R A, McCormick P: Reduced fertility in women with X chromosome abnormality. Clin. Genet. 25:301-309, 1984. [PubMed: 6713704]Patient 2 (AD).46,X,r(X)(p22.3q28).Aberration: Ring chromosomeNegative band
- Frints S G M, Fryns J-P, Lagae L, Syrrou M, Marynen P, Devriendt K.: Xp22.3;Yq11.2 chromosome translocation and its clinical manifestations. Ann. Genet. 44:71-76, 2001. [PubMed: 11522244]Mother=46,X,der(X)t(X;Y)(Xqter->Xp22.3;Yq11.21->Yqter).,Boy=46,Y,der(X)t(X;Y)(Xqter->Xp22.3::Yq11.21->Yqter)mat.Mother had a normal phenotype with normal stature and gonadal function but borderline intelligence. The boy had postnatal growth retardation, developmental delay, partial icthyosis and facial dysmorphism.The breakpoints were between DXS278 and the KAL gene, and the DYS391 and DYS390.Aberration: Simple translocation
- Gabriel-Robez O, Rumpler Y, Ratomponirina C, Petit C, Levilliers J, Croquette M F, Couturier J: "Deletion of the pseudoautosomal region and lack of sex-chromosome pairing at pachytene in two infertile men carrying an X;Y translocation." Cytogenet. Cell Genet. 54:38-42, 1990. [PubMed: 2249473]46,Y,der(X),t(X;Y)(p22.3;q11).,"46,X,der(X),t(X;Y)(p22.3;q11)."Aberration: Simple translocationNegative band
- Gohlke B C, haug K, Fukami M, Friedl W, Noeker M, Rappold G A, Haverkamp F.: Interstitial deletion in Xp22.3 is associated with X linked ichthyiosis, mental retardation, and epilepsy. J. Med. Genet.37:600-602 2000, [PMC free article: PMC1734650] [PubMed: 10922387]Patients 1 and 2 were homozygous twins.Aberration: Interstitial deletionMIM#: 308100Chromosomal Aneuploidy: Xp-No band
- Goodfellow P N, Pym B, Mohandas T K, Shapiro L J: The cell surface antigen locus, MIC2X, escapes X-inactivation. Nature 302:346-349, 1984,1983. [PMC free article: PMC1684497] [PubMed: 6540985]It is shown that MIC2X is located in the region Xp22.3->Xpter.,"t(X;Y)(Xqter->Xp223::Yq11->Yqter)"Aberration: Simple translocationNegative band
- Goodman B K, Shaffer L G, Rutberg J, Leppert M, Harum K, Gagos S, Ray J H, Bialer M G, Zhou X, Pletcher B A, Shapira S K, Geraghty M T.: Inherited duplication Xq27-qter at Xp22.3 in severely affected males: molecular cytogenetic evaluation and clinical description in three unrelated families. AJMG 80:377-384, 1998. [PubMed: 9856567]Cases 1(M.C.), 2 (G.T.), 3 and 4 (twins=S.B. and R.B.):Case 1:46,Y,dup(X)(qter->q27.2::p22.33->qter).,Cases 2-4:46,Y,dup(X)(qter->q27::p22.3->qter).The phenotypic manifestations include severe growth retardation and developmental delay, and severe axial hypotonia.Aberration: DuplicationChromosomal Aneuploidy: Xq+;Xp-
- Hardelin J P, Levilliers J, del Castillo I, Cohen-Salmon M, Legouis R, Blanchard S, Compain S, Bouloux P, Kirk J, Moraine C, Chaussain J L, Weissenbach J, Petit C: X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene. PNAS 89:8190-8194, 1992. [PMC free article: PMC49883] [PubMed: 1518845]MIM#: 308700Index Terms: Kallmann syndromeNegative band
- Henke A, Wapenaar M, van Ommen G J, Maraschio P, Camerino G, Rappold G: Deletions within the pseudoautosomal region help map three new markers and indicate a possible role of this region in linear growth. AJHG 49:811-819, 1991. [PMC free article: PMC1683157] [PubMed: 1897527]Patient CC.mos45,X(Blood-29%;Skin-3%)/46,X,psudic(X),(IXqter->IXp22.3::IIXp22.3->IIXqter).She was short or in the less than 50th%ile.It is suggested that a locus affecting height maps in a region of about 1.5 Mbp, distal to the DXS406 and proximal to the DXS415 locus.Aberration: Dicentric chromosomeNegative band
- Jalal S M, Law M E, Christensen E R, Spurbeck J L, Dewald G W: Method for sequential staining of GTL-banded metaphases with fluorescent-labeled chromosome specific paint probes. AJMG 46:98-103, 1993. [PubMed: 8494038]Case 2:46,X,-X,+der(X)t(X;4)(p22.3;q27).,46,X,-X,+der(X)t(X;4)(Xqter->Xp22.3::4q27->4qter).The 7 year-old patient had multiple minor anomalies.Chromosome specific paint for 4 was used to show the two normal 4s and the translocated segment.Aberration: Simple translocationChromosomal Aneuploidy: 4q+,Xp-Index Terms: Chromosome specific paints CSPNegative band
- Jalal S M, Law M E.: Utility of multicolor fluorescent in situ hybridization in clinical cytogenetics. Genet. in Med. 1:181-186, 1999. [PubMed: 11256670]Also see the editorial by Dr. Stuart Scwartz entitled ''Molecular cytogenetics: show me the colors'' pages 178-180 in the same issue.Case 2:46,X,add(X)(p22.3).ish t(X;Y)(SRY+)The 27 year old male was referred to rule out Klinefelter syndrome.Aberration: Simple translocationChromosomal Aneuploidy: Xp-Index Terms: Multicolor FISH (M-FISH)
- Joseph M, Cantu E S, Pai G S, Willi S M, Papenhausen P R, Weiss L.: Xp pseudoautosomal gene haploinsufficiency and linear growth deficiency in three girls with chromosome Xp22;Yq11 translocation. J. Med. Genet. 33:906-911, 1996. [PMC free article: PMC1050783] [PubMed: 8950669]Cases 1, 2, and 3.46,X,der(X)t(X;Y)(p22.3;q11.21)de novo.Colony stimulating factor-2 receptor alpha (CSF2RA) and interluken-3 receptor alpha (IL3RA) genes related to short stature are discussed.Aberration: Simple translocationMIM#: 306250,308385Negative band
- Joyce C A, Ross F M, Dennis N R, Wyre N D, Barber J C K.: Multipaint FISH: a rapid and reliable way to define cryptic and complex abnormalities. Clin. Genet. 56:192-199, 1999. [PubMed: 10563478]Case 1:46,Y,der(X)t(X;12)(p22.3;q24.22 or q24.31)de novo.ish der(X)t(X;12)(wcpX+,wcp12+).The patient was 3 years old with several several dysmorphic features.Aberration: Simple translocation
- Kalz-Fuller B, Sleegers E, Schwanitz G, Schubert R.: Characterisation, phenotypic manifestations and X-inactivation pattern in 14 patients with X-autosome translocations. Clin. Genet. 55:362-366, 1999. [PubMed: 10422808]Patient 5:46,X,t(X;10)(p22.3;q25.2)de novoA female patient, about 8 years old, had facial dysmorphisms. The der(X) was 50% early replicating.Aberration: Simple translocationIndex Terms: X-inactivation pattern in X-autosome translocations
- Karaman B, Wollnik B, Ermis H, Yuksel-Apak M, Basaran S.: A familial Xp+ chromosome detected during fetal karyotyping, which is associated with short stature in four generations of a Turkish family. Prenat. Diag. 23:336-339, 2003. [PubMed: 12673642]46,X,Xp+.ish del(X)(SHOX-)The breakpoint was between SHOX and the KAL region.Aberration: Interstitial deletionMIM#: 312865Chromosomal Aneuploidy: Xp-Index Terms: Turk(ish)
- Kayserili H, Cox T C, Cox L L, Basaran S, Kilic G, Ballabio A, Yuksel-Apak M.: Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS). J. Med. Genet. 38:411-417, 2001. [PMC free article: PMC1734893] [PubMed: 11424926]46,X,del(X)(p22.3->pter)de novo.Aberration: Terminal deletionChromosomal Aneuploidy: Xp-Index Terms: Microphthalmia with linear skin defects (MLS)No band
- Kirchhoff M, Rose H, Lundsteen C.: High resolution comparative genomic hybridisation in clinical cytogenetics. J. Med. Genet. 38:740-744, 2001. [PMC free article: PMC1734756] [PubMed: 11694545]Case No. 14=46,X,add(Xp).rev ish der(X)t(X;Y)(p22.3;q11)enh(Yq11->qter).The patient had Turner syndrome.Case No. 16=46,X,add(X)(p).rev ish der(X)t(X;Y)(p22.3;p10)enh(Yp10->pter).The patient was a mentally retarded male.Aberration: Simple translocationChromosomal Aneuploidy: Xp-;Yq+
- Kotzot D, Hoffmann K, Kujat A, Holland H, Froster U G, Mucke J.: Implications of FISH investigations in MIDAS syndrome associated with a 46,XX,t(X;Y) karyotype. AJMG DOI=10.1002/ajmg.10718; 113:108-110, 2002. [PubMed: 12400076]46,X,der(X)t(X;Y)(p22.3;p11.2)mat.These two cases, patient and her mother, were reported earlier by Mucke.Aberration: Simple translocationMIM#: 309801Index Terms: MIDAS syndrome
- Kulharya A S, Roop H, Kukolich M K, Nachtman R G, Belmont J W, Garcia-Heras J.: Mild phenotypic effects of a de novo deletion Xpter->Xp22.3 and duplication 3pter->3p23. AJMG 56:16-21, 1995. [PubMed: 7747779]46,X,t(X;3)(Xqter->Xp22.3::3p23->3pter)de novo.The 3.5 year old girl was evaluated for minor anomalies and speech delay.Aberration: Simple translocationChromosomal Aneuploidy: Xp-Negative band
- Kuznetzova T, Baranov A, Ivaschenko T, Savitsky G A, Lanceva O E, Wang M R, Giollant M, Malet P, Kascheeva T, Vakharlovsky V, Baranov V S: "X;Y translocation in a girl with short stature and some features of Turner''s syndrome: cytogenetic and molecular studies." J. Med. Genet. 31:649-651, 1994. [PMC free article: PMC1050031] [PubMed: 7815426]46,X,t(X;Y)(p22.3q11).Aberration: Simple translocationNegative band
- Lau L-C, Lim P, Lui W-O, Chong Y-Y.: Myelodysplastic syndrome with transformation to AML-M7 in a 46,XX male patient. Cancer Genet. Cytogenet. 136:153-154, 2002. [PubMed: 12237243]Patient was a 31 year old male who presented with right iliac fossa pain to the ER.Bone marrow=45,XX,-7.,Blood with PHA=46,XX.,Two years later, BM, after diagnosis of AML=,46,XX.ish der(X)t(X;Y)(wcpY+)The patient died two weeks after induction therapy.Aberration: Simple translocationChromosomal Aneuploidy: Yp+Index Terms: AML-M7 in a 46,XX male
- Levy B, Dunn T M, Kaffe S, Kardon N, Hirschhorn K.: Clinical applications of comparative genomic hybridization. Genet. in Med. 1:4-12, 1998. [PubMed: 11261428]Case 8 (referred by L. R. Shapiro and Monica Zak):46,XX,add(X)(p22.3).rev ish der(X)t(X;10)(p22.3;p12.33),enh(10)(pterp12.33)The female patient was 8 years old with developmental delay, short stature, myopia and sacral dimple.Aberration: Simple translocationChromosomal Aneuploidy: Xp-;10p+
- Lonardo F, Parenti G, Luquetti D V, Annunziata I, Monica M D, Perone L, De Gregori M, Zuffardi O, Brunetti-Pierri N, Andria G, Scarano G.: Continguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with icthyosis, chondrodysplasia punctata, mental retardation and ADHD. Europ. J. Med. Genet. 50: 301-308, 2007. [PubMed: 17591464]46,Y,del(X)(p22.31p22.33).The patient was 13 years old.The deletion is about 5.5 Mb.Aberration: Interstitial deletionChromosomal Aneuploidy: Xp-Index Terms: ADHD, ichthyyosis, Chondrodysplasia punctata
- Maraschio P, Simoni G, Terzoli G L, d''Alberton A, Crosignani P G: X chromosomes attached by their short arm: presence of an inactive centromere influences the replication patterns. Ann. Genet. 23:208-212, 1980. [PubMed: 6971597]46,X,i dic(X)(p223::p223).Aberration: Dicentric chromosomeNegative band
- Matsuo M, Muroya K, Adachi M, Tachibana K, Asakura Y, Nakagomi Y, Hanaki K, Yokoya S, Yoshizawa A, Igarashi Y, Hanew K, Matsuo N, Ogata T.: Clinical and molecular studies in 15 females with ring X chromosomes: implications for r(X) formation and mental development. Hum. Genet. 107:433-439, 2000. [PubMed: 11140940]
Matsuo M, Muroya K, Nanao K, Hasegawa Y, Terasaki H, Kosaki K, Ogata T.: Mother and daughter with 45,X/46,X,r(X)(p22.3q28) and mental retardation: analysis of the X-inactivation patterns. AJMG 91:267-272, 2000. [PubMed: 10766981]
Uehara S, Nata M, Obara Y, Niinuma T, Funato T, Yajima A.: A Turner syndrome woman with a ring X chromsome [45,X/46,r(X)(p22.3q27] whose child also had a ring X chromsome. Fert. Ster. 67:576-579, 1997. [PubMed: 9091352]The ring X chromosome was missing a roughly 12-Mb region and breakpoint was found to be between DXS85 and DXS9972.mos45,X/46,X,der(X)(Xp22.3q27)matThe mother was 32 years old and was evaluated for IUGR.DNA analyses showed that the mother had transmitted the ring X chromosome.Aberration: Ring chromosome - May C A, Shone A C, Kalaydjieva L, Sajantila A, Jeffreys A J.: Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX. Nature Genet. 31:272-275, 2002. [PubMed: 12089524]PAR1 crossover activity may be influenced by male-specific hot spots.MIM#: 312865,604271Index Terms: SHOX, PAR1
- Meindl A, Hosenfeld D, Bruckl W, Schuffenhauer S, Jenderny J, Bacskulin A, Oppermann H C, Swensson O, Bouloux P, Meitinger T: Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X-linked ocular albinism. J. Med. Genet. 30:838-842, 1993. [PMC free article: PMC1016566] [PubMed: 8230160]46,X,del(X)(p22.3).Aberration: Terminal deletionChromosomal Aneuploidy: Xp-
- Mohamed F M, Tolmie J, Connor J M, Bastaki L, Krishna Murthy D S. : Delineation of trisomy 16q resulting from de novo X;16 translocation by cytogenetic, FISH and late replication studies in a child with mild dysmorphic features. AJHG 67 (Suppl. 2):147, 2000.46,X,-X,+der(X),t(X;16)(p22.3;q24)de novo.The patient was 16 months old with heart defect and developmental delay.Aberration: Simple translocationChromosomal Aneuploidy: Xp-;16q+No band
- Morel F, Fellmann F, Roux C, Bresson J L.: Meiotic segregation analysis by FISH investigation of spermatozoa of a 46,Y,der(X),t(X;Y)(qter->p22::q11->qter) carrier. Cytogenet. Cell Genet. 92:63-68, 2001. [PubMed: 11306798]46,Y,der(X),t(X;Y)(p22.3;q11)(wcpX+, DXS28-, DXS28-, DYZ3-, DYZ1+, DXS7059+).The 30 year old man had short stature and azoospermia and later on severe oligozoospermia.Aberration: Simple translocationChromosomal Aneuploidy: Xp-No band
- Muroya K, Ogata T, Matsuo N, Nagai T, Franco B, Ballabio A, Rappold G, Sakura N, Fukushima Y.: Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: implications for the MRX locus. AJMG 64:583-587, 1996. [PubMed: 8870926]46,Y,der del(X)(p22.3)mat.The deletion included 11 loci from DXS996 to DXS410 comprising STS, KAL1, and OA1.Aberration: Interstitial deletionChromosomal Aneuploidy: Xp-Index Terms: MRX locusNegative band
- Nagata K, Yamamoto T, Chikumi H, Ikeda T, Yamamoto H, Hashimoto K, Yoneda K, Nanba E, Ninomiya H, Ishitobi K.: A novel interstitial deletion of KAL1 in a Japanese family with Kallmann syndrome. J. Hum. Genet. 45:237-240, 2000. [PubMed: 10944855]The deletion spanned from exons 5 to 10 of KAL1. Both brothers had hypogonadism, unilateral renal agenesis, and disturbance of the sense of smell, but they had no other neurological manifestations, including mental disturbance. Mother was found to be a carrier.Aberration: Interstitial deletionMIM#: 308700Chromosomal Aneuploidy: Xp-Index Terms: Kallmann syndrome,KAL1No band
- Nakagome Y, Nakahori Y, Mitani K, Matsumoto M: The loss of centromeric heterochromatin from an inactivated centromere of a dicentric chromosome. Jpn. J. Hum. Genet. 31:21-26, 1986. [PubMed: 3735755]Case 2422.46,X,psu dic(X)(p22.3).Aberration: Dicentric chromosomeNegative band
- Naritomi K, Izumikawa Y, Nagataki S, Fukushima Y, Wakui K, Niikawa N, Hirayama K: Combined Goltz and Aicardi syndromes in a terminal Xp deletion: are they a contiguous gene syndrome? AJMG 43:839-843, 1992. [PubMed: 1642272]Patient 2.46,X,del(X)(qter -> p22.3:).Both patients had microphtgalmia, cloudy corneae, mild linear skin lesions, and agenesis of corpus callosum.Aberration: Terminal deletionMIM#: 304050,305600Chromosomal Aneuploidy: Xp-Index Terms: Goltz syndrome,Aicardi syndrome,Corneae ... cloudy,Agenesis of corpus callosumNegative band
- Ogata T, Petit C, Rappold G, Matsuo N, Matsumoto T, Goodfellow P: Chromosomal localisation of a pseudoautosomal growth gene(s). J. Med. Genet. 29:624-628, 1992. [PMC free article: PMC1016092] [PubMed: 1404292]46,Y,der del(X)(p22.3)mat.A single copy for DXYS17 and MIC2 was present. PABX to STS loci absent in the patient (ie boy) and present in single copy in the mother.Aberration: Interstitial deletionMIM#: 313470,308100Chromosomal Aneuploidy: Xp-Negative band
- Ohdo S, Yamada K, Madokoro H, Sonoda T, Kawaguchi K, Ohba K I: "Familial X;Y translocation in a malformed male infant and his mother." Jpn. J. Hum. Genet. 33:377-384, 1988. [PubMed: 3204691]Case 1, 260886.46,X,der(X),t(X;Y)(p22.3;q11.1).,46,Y,der(X),t(X;Y)(p22.3;q11.1)mat.Patient had a peculiar face, CHD, dry and scaly skin, and growth and psychomotor retardation.Aberration: Simple translocationChromosomal Aneuploidy: Xp-Negative band
- Pereira E T, de Almeida J C C, Patton M, Jeffrey S.: Clinical and molecular studies in a mother and son with Xp22.3 deletion. Braz. J. Genet. 19:359-364, 1996.Patient MHBS:46,Y,der(X),t(X:Y)(p22.3;q11)mat.,Mother:46,X,t(X;Y)(p22.3;q11)de novo.The 14 year old presented with short stature, moderate MR, seizures, ichthysiosis, anosmia, and hypogonadotropic hypogondism (Kallmann syndrome).Mother MHB was first seen at 39 years of age.Aberration: Terminal deletionChromosomal Aneuploidy: Xp-Index Terms: Kallmann syndromeNegative band
- Peretti D, Maraschio P, Lambiase S, Curto F L, Zuffardi O: Indirect immunofluorescence of inactive centromeres as indicator of centromeric function. Hum. Genet. 73:12-16, 1986. [PubMed: 3519430]
Zuffardi O, Maraschio P, Curto F L, Muller U, Giarola A, Perotti L: The role of Yp in sex determination: new evidence from X/Y translocations. AJMG 12:175-184, 1982. [PubMed: 6954848]Patient was 33 years old, with azoospermia, short stature, and H(Y) antigen positive. Factors controlling height are located on the distal portion of Xp and Yp.46,X,t(X;Y)(Xqter->Xp223::Yp11->Yqter).Aberration: Simple translocationIndex Terms: Azoospermia,Stature ... short (low)Negative band - Plessis G, Couturier J, Turleau C, Despoisses S, Delavenne J: "''Pure'' partial trisomy 2q in a male owing to malsegregation of a maternal translocation t(X;2)(p22.3;q32.1)." J. Med. Genet. 22:70-73, 1985. [PMC free article: PMC1049383] [PubMed: 3981584]46,X,t(X;2)(p22.3;q32.1).,46,Y,der(X),t(X;2)(Xqter->Xp22.3::2q32.1->2qter)mat.Aberration: Simple translocationNegative band
- Quaderi N A, Schwiger S, Gaudenz K, Franco B, Rugarli E I, Berger W, Feldman G J, Volta M, Andolfi G, Gilgenkrantz S, Marion R W, Hennekam R C M, Opitz J M, Muenke M, Ropers H H, Ballabio A.: Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nature Genet. 17:285-291, 1997. [PubMed: 9354791]
Verloes A, David A, Odent S, Toutain A, Andre M J, Lucas J, Le Marec B.: Opitz GBBB syndrome: chromosomal evidence of an X-linked form. AJMG 59: 123-128, 1995. [PubMed: 8849003]A three generation family is presented.46,X or Y, der inv(X)(p22.3q26.3)mat.This disorder is characterized by midline defects including hypertelorism, hypospadias, lip-palate-laryngotracheal clefts and imperforate anus.Aberration: Inversion pericentricMIM#: 145410,300000Index Terms: Opitz G/BBB syndrome,Midline1(MID1)Negative band - Rao P N, Klinepeter K, Stewart W, Hayworth R, Grubs R, Pettenati M J.: Molecular cytogenetic analysis of a duplication Xp in a male: further delineation of a possible sex influencing region on the X chromosome. Hum. Genet. 94:149-153, 1994. [PubMed: 8045561]Patient Z.H.46,Y,dir dup(X)(pter->p22.3::p22.3->p22.2::p22.3->qter)mat.The patient had severe mental retardation and autism.Aberration: Direct duplicationChromosomal Aneuploidy: Xp+Index Terms: Autis(m)(tic)Negative band
- Reddy K S, Yang X.: Submicroscopic terminal deletion of 1p36.3 and Xp23 hidden in complex chromosome rearrangements: independent mechanism of telomere restitution on the two chromatids. AJMG 117A:261-267, 2003. [PubMed: 12599190]Case 2=mos46,X,der(X)t(X;22)(p22.3;q11.2),inv dup(22)(q11.2).ish der(X)(wcpX+,wcp22+,KAL+,STS-,Xptel-,BCR+),inv dup(22)(wcp22+,TUPLE++,BCR-)[85]/45,X,der(X)t(X;22)(p22.3;q11.2),-22[15].ish der(X)(wcpX+,wcp22+,KAL+,STS-,Xptel-,BCR+).The 1 year-old had several dysmorphic features and had significant developmental delay.Aberration: Reciprocal translocationChromosomal Aneuploidy: Xp-
- Rivera H, Moller M, Arreola R, Cantu J M: "Mild expression of 3qter trisomy due to a de novo (X;3)(p22.3;q25.3) translocation." Ann. Genet. 27:112-114, 1984. [PubMed: 6331787]46,X,t(X;3)der(X)t(X;3)(p22.3;q25.3).Aberration: Simple translocationNegative band
- Rivera H, Sole M T, Garcia-Cruz D, Martinez-Wilson M, Cantu J M: "On telomere replication and fusion in eukaryotes: apropos of a case of 45,X/46,X,ter rea(X;X)(p22.3;p22.3)." Cytogenet. Cell Genet. 38:23-28, 1984. [PubMed: 6705562]The 18 year old patient was referred because of short stature and amenorrhea.Aberration: Terminal rearrangementsIndex Terms: Stature ... short (low)Negative band
- Sachs E S, Van Hemel J O, Los F J: Prenatal cytogenetic and postnatal molecular studies on 46,XX male. Lancet 339:180-181, 1992. [PubMed: 1346031]46,X,t(X;Y)(Xqter->Xp22.3::Yp11.2->Ypter).First pregnancy of the mother resulted in termination because a 45,X fetus was detected when hygroma was found. Third pregnancy resulted in this rare condition. Parental karyotyping was not done.Aberration: Simple translocationIndex Terms: XX male,Prenatal ... studiesNegative band
- Seidel J, Schiller S, Kelbova C, Beensen V, Orth U, Vogt S, Claussen U, Zintl F, Rappold G A.: Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation. Clin. Genet. 59:115-121, 2001. [PubMed: 11260213]46,Y,der(X),t(X;Y)(Xqter->Xp22.3::Yq11.2->Yqter)mat.The male patient was 8 years old, who had mesomelic shortening of forearms and legs, brachytelephalangia and ichthyotic skin lesions. The mother had dwarfism and Madelung deformity with Leri- Weill syndrome.Aberration: Simple translocationChromosomal Aneuploidy: Xp-Index Terms: Brachytelephalangic dwarfism, SHOX, ARSE,Leri-Weill syndromeNo band
- Sharp A, Kusz K, Jaruzelska J, Tapper W, Szarras-Czapnik M, Wolski J, Jacobs P.: Variability of sexual phenotype in 46,XX(SRY+) patients: the influence of spreading X inactivation versus position effects. J. Med. Genet. 42: 420-427, 2008. [PMC free article: PMC1736057] [PubMed: 15863672]15 cases of t(Xp;Yp) were studied including Yp inversion polymorphism.It is suggested that incomplete masculisation in cases of X/Y translocation is a result of disruption of normal SRY expression by position effect rather tha X inactivation.Aberration: Simple translocationIndex Terms: SRY+
- Speevak M, Clifford B, Cox D M, Hunter A G W: "Detection at amniocentesis of a maternally inherited X;Y translocation." Clin. Genet. 27:595-599, 1985. [PubMed: 3860319]46,X,t(X;Y)(p22.3;q11.2).Aberration: Simple translocationNegative band
- Speevak M, Farrell S A, Chadwick D.: Molecular and cytogenetic characterization of a prenatally ascertained de novo (X;Y) translocation. AJMG 98:107-108, 2001. [PubMed: 11426448]46,X,t(X;Y)(p22.3;q11.2)de novoMother was 37 years old and continued the pregnancy.,At age 3 3/4 years, the development is within normal limits.Aberration: Simple translocationNo band
- Spranger S, Kirsch S, Mertz A, Schiebel K, Tariverdian G, Rappold G A.: Molecular studies of an X;Y translocation chromosome in a woman with deletion of the pseudoautosomal region but normal height. Clin. Genet. 51:346-350, 1997. [PubMed: 9212185]
Spranger S, Schiller S, Jauch A, Wolff K, Rauterberg-Ruland I, hager D, Tariverdian G, Troger J, Rappold G.: Leri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3. AJMG 83:367-371, 1999. [PubMed: 10232745]46,X,der(X)t(X;Y)(p22.3;q11.2)Patient was 20 years old.Mother=46,X,del(X)(p22.3).,Son=46,Y,del(X)(p22.3).Aberration: Simple translocationMIM#: 127300Index Terms: Leri-Weill syndromeNo band - Thomas N S, Sharp A J, Browne C E, Skuse D, Hardie C, Dennis N R.: Xp deletions associated with autism in three females. Hum. Genet. 104:43-48, 1999. [PubMed: 10071191]Case no. 6, patient ID 96-01693:46,X,del(X)(p22.31 or p22.32)de novo.Developmental delay was present.Origin of the deleted X was paternal.Case no. 8, patient ID 86-01593:46,X,der(X)t(X;Y)(p22.3;q11.2)de novo.The patient had micropthalmia with linear skin defects syndrome (MLS).Deleted X was paternal in origin.Aberration: ST,TDChromosomal Aneuploidy: Xp-Index Terms: Micropthalmia with linear skin defects syndrome (MLS)
- Tuck-Muller C M, Martinez J E, Batista D A S, Kearns W G, Wertelecki W: Duplication of the short arm of the X chromosome in mother and daughter. Hum. Genet. 91:395-400, 1993. [PubMed: 8500796]46,X,dic inv dup(X)(qter->p22.3::p22.3->cen:).The 11 year old was evaluated because of motor and speech delay, seizures and short stature. Her mother was short, mentally retarded and reported to have seizures.Aberration: DI,DUChromosomal Aneuploidy: Xp+Index Terms: Inverted duplicationNegative band
- Turleau C, Chavin-Colin F, de Grouchy J, Repesse G, Bauvais P: "Familial t(X;2)(p223;q323) with partial trisomy 2q and male and female balanced carriers." Hum. Genet. 37:97-104, 1977. [PubMed: 881200]46,X,t(X;2)(p223;q323).,46,Y,t(X;2)(p223;q323).,46,X,der(X)t(X;2)(Xqter->Xp223::2q323->2qter)mat.Aberration: Simple translocationNegative band
- Uehara S, Hanew K, Harada N, Yamamori S, Nata M, Niikawa N, Okamura K.: Isochromosome consisting of terminal short arm and proximal long arm in a girl with short stature. AJMG 99:196-199, 2001. [PubMed: 11241489]46,X,der(X)(Xpter->Xp22.3::Xq22.3->cen->Xq22.3::Xp22.3->Xpter).ishder(X)(wcpX+,TelXp/Yp++,SHOX++,STS++,KAL,37A12-,DXZ1+,XIST++,97L7++,300O13-,404F18-,417G15-,399M14-,140A-,TelXq/Yq-).The girl was 7 11/12 years old.Aberration: Isochromosome
- Van Maldergem L, Espeel M, Roels F, Petit C, Dacremont G, Wanders R J A, Verloes A, Gillerot Y: X-linked recessive chondrodysplasia punctata with XY translocation in a stillborn fetus. Hum. Genet. 87:661-664, 1991. [PubMed: 1937466]46,Y,-X,+der(X)t(X;Y)(p22.3;q11.23)mat.,46,X,t(X;Y)(Xqter->Xp22.3::Yq11.23->Yqter).The fetus died in a few minutes after premature labor at 26 weeks of gestation.,Mother was 29 years old with short stature and no radiological evidence of osteochondrodysplasia although ulnar deviation of the carpal angle was present.Aberration: Simple translocationMIM#: 302950Index Terms: Osteochondrodysplasia,Chondrodysplasia punctataNegative band
- Vassal H, Medeira A, Cordeiro I, Santos H G, Castedo S, Saraiva C, Mendes da Silva P, Monteiro C.: Terminal deletion of Xp22.3 associated with contiguous gene syndrome: Leri-Weill dyschondtrosteosis, developmental delay, and ichthyosis. AJMG 99:331-334, 2001. [PubMed: 11252003]An 8 year old boy and his mother have LWD and deletion at Xp22.3.Aberration: Terminal deletionMIM#: 127300Chromosomal Aneuploidy: Xp-Index Terms: Leri-Weill syndromeNo band
- Viljoen D L, Speleman F, Smart R, Van Roy N, du Toit J, Leroy J: Putative monosomy 21 in two patients: clinical findings and investigation using fluorescence in situ hybridization. Clin. Genet. 42:105-109, 1992. [PubMed: 1395079]Patient 2: B.M.45,X,-X,-21,+der(X)t(X;21)(Xqter -> Xp22.3::21q21.1 -> 21qter).Patient had prominent nose, divergent squint and sparse hair.Aberration: Simple translocationChromosomal Aneuploidy: 21q-,Xp-Negative band
- Waters J J, Campbell P L, Crocker A J M, Campbell C M.: Phenotypic effects of balanced X-autosome translocations in females: a retrospective survey of 104 cases reported from UK laboratories. Hum. Genet. 108:318-327, 2001. [PubMed: 11379878]Case 4=46,X,t(X;5)(p22.3;p15.1).,Case 5=46,X,t(X;9)(p22.3;q12)de novo.Aberration: Simple translocationNo band
- Weil D, Portnoi M F, Levilliers J, Wang I, Mathieu M, Taillemite J L, Meier M, Boudailliez B, Petit C: "A 45,X male with an X;Y translocation: implications for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata." Hum. Mol. Genet. 2:1853-1856, 1993. [PubMed: 8281147]
Weil D, Wang I, Dietrich A, Poustka A, Weissenbach J, Petit C: Highly homologous loci on the X and Y chromosomes are hot-spots for ectopic recombinations leading to XX maleness. Nature Genet. 7:414-419, 1994. [PubMed: 7920661]Patient PAR 475.45,t(X;Y)(p22.3;p11).Patient was 13 years old with Turner stigmata. External genitalia were male with small testes.Aberration: Simple translocationMIM#: 302960Index Terms: Chondrodysplasia punctata,Turner syndromeNegative band - Weissortel R, Strom T M, Dorr H G, Rauch A, Meitinger T.: Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation. Clin. Genet. 54:45-51, 1998. [PubMed: 9727739]Patient CB was seen at 15.4 years because of delayed puberty and obesity.46,Y,del(X)(p22.3)Aberration: Interstitial deletionMIM#: 308700Chromosomal Aneuploidy: Xp-Index Terms: Kallman syndrome,X-linked ichthyosis
- Wyandt H E, Bugeau-Michaud L, Skare J C, Milunsky A: Partial duplication of Xp: a case report and review of previously reported cases. AJMG 40:280-283, 1991. [PubMed: 1951429]Patient 1, KP was reported initially in 1991 and karyotype was reinterpreted after FISH:46,X,inv dup(X)(p22.1p11.2) del(X)(p22.2p22.3).The 24 year-old patient had short stature, irregular menses, shield chest and other minor stigmata of Ullrich-Turner syndrome.The deletion is between DXS1233 and DXS7108.Patient 2, RI, was 14 years old with short stature, learning disabilities, and paranoid schizophrenia.46,X,del(X)(p22.2p22.33)The deletion spanned 10-12cM between AFMB290XG5 and DXS1060.Aberration: DuplicationIndex Terms: SchizophreniaPositive band
- Yen P H, Tsai S P, Wenger S L, Steele M W, Mohandas T K, Shapiro L J: X/Y translocations resulting from recombination between homologous sequences on Xp and Yq. PNAS 88:8944-8948, 1991. [PMC free article: PMC52627] [PubMed: 1924355]Patient RP.46,Y,dert(X;Y)(p22.3;q11.2)mat.Aberration: Simple translocationIndex Terms: Homologous recombinationNegative band
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Copyright © 2011-2013, Digamber
Borgaonkar.
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National Center for Biotechnology Information (US), Bethesda (MD)
NLM Citation
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-. 0Xp223.