- De Wit J: Regional localization of a beta-galactosidase locus on human chromosome 22. Somat. Cell Genet. 3:351-363, 1977. [PubMed: 414365]
Pearson P L, van der Linden A G J M, Hagemeijer A: Localization of gene markers to regions of the human X chromosome by segregation of X-autosome translocations in somatic cell hybrids. BD-OAS X(No. 3):136-142, 1974. [PubMed: 4827480]cited by Gerald, P S and J A Brown:29-34t(X;22)(q23;q13).&"t(X;22)(q23;q13)."Aberration: Simple translocationPositive band - Faed M J W, Lamont M A, Baxby K: Cytogenetic and histological studies of testicular biopsies from subfertile men with chromosome anomaly. J. Med. Genet. 19:49-56, 1982. [PMC free article: PMC1048819] [PubMed: 7069747]Patient 269/76.46,Y,t(X;21)(q23;q11).Aberration: Simple translocationPositive band
- Fryns J P, Petit P, Kleczkowska A, Van Den Berghe H: Replication and inactivation of an isodicentric X: presence of an inactive centromere influences the replication patterns. Clin. Genet. 24:180-183, 1983. [PubMed: 6627721]Patient R. G. was 30 years old.46,X,idic(X)(pter -> q23::q23 -> pter).Aberration: Dicentric chromosomePositive band
- Garcia-Heras J, Martin J A, Day D W, Scacheri P, Witchel S F.: "De novo" duplication Xq23->q26 of paternal origin in a girl with a mildly affected phenotype. AJMG 70:404-408, 1997. [PubMed: 9182782]Patient KG was 3 years old.46,XX,dir dup(X)(q23->q26)de novoThe 3 year old girl had mental retardation, developmental delay, and minor anomalies.Aberration: DuplicationChromosomal Aneuploidy: Xq+No band
- Garica-Heras J, Martin J A, Day D A, Scacheri P, Witchel S F.: "De novo" duplication Xq23->Xq26 of paternal origin in a girl with a mildly affected phenotype. AJMG 70:404-408, 1997. [PubMed: 9182782]Aberration: DuplicationChromosomal Aneuploidy: Xq+
- Keitges E A, Palmer C G: Analysis of spreading of inactivation in eight X autosome translocations utilizing the high resolution RBG technique. Hum. Genet. 72:231-236, 1986. [PubMed: 3957346]Case 1 was a prepubertal male with asymmetric facies, bifid uvula, hypoplastic ears, possible hearing deficit, short stature, kyphoscoliosis, and psychomotor retardation.47,XY,+der(X),t(X;7)(q23;q22).&"47,XY,+der(X),t(X;7)(Xpter -> Xq23::7q22 -> 7qter)."Aberration: Reciprocal translocationChromosomal Aneuploidy: Xpq+Index Terms: Ears ... hypoplastic,Face ... asymmetric (hemi hypertrophy),Kypho-scoliosis,Stature ... short (low)Positive band
- Maraschio P, Scappaticci S, Ferrari E, Fraccaro M: X chromosomes attached by their long arm: replication autonomy of the short arm adjacent to the inactive centromere. Ann. Genet. 20:179-183, 1977. [PubMed: 304701]
Maraschio P, Zuffardi O, Locurto F: cd bands and centromeric function in dicentric chromosomes. Hum. Genet. 54:265-267, 1980. [PubMed: 7390495]A 16 year-old patient, C. S., was studied because of short stature and amenorrhoea.45,X/46,X,t(X;X)(q27;q23).&"45,X/46,X,t(X;X)(Xpter -> Xq27::Xq23 -> Xpter)."Aberration: Simple translocationIndex Terms: Stature ... short (low)Positive band - Mesa-Cornejo V M, Garcia-Cruz D, Monroy-Jaramillo N, Vasquez A I, Davalos N O, Galaviz C, Kofman S.: Del Xq23 in a mosaic Turner female: molecular and cytogenetic studies. Ann. Genet. 44:171-174, 2001. [PubMed: 11755099]mos45,X[6]/46,X,del(X)(q23)[24]-blood.The patient was 22 years old.The abnormal X was maternal in origin. Telomeres were detected.Aberration: Terminal deletionChromosomal Aneuploidy: Xq-
- Mijin K, Stolevic E, Adzic S, Laca Z, Markovic S: X long arm deletion with oligomenorrhea. J. Med. Genet. 19:305-306, 1982. [PMC free article: PMC1048901] [PubMed: 7120321]Patient was 35 years old.46,X,del(X)(pter -> q23:).Aberration: Terminal deletionIndex Terms: OligomenorrhoeaPositive band
- Monaghan K G, Van Dyke D L, Feldman G L.: Prader-Willi-like syndrome in a patient with an Xq23q25 duplication. AJMG 80:227-231, 1998. [PubMed: 9843044]46,X,dup(X)(q23q25)de novoThe patient was 24 years old.Aberration: DuplicationChromosomal Aneuploidy: Xq+Index Terms: PW-like syndrome
- Morichon-Delvallez N, Couturier J, Bourdrel V: "Inherited Xq duplication due to a zygotic translocation t(X;X)(q23;q27)." Ann. Genet. 31:117-119, 1988. [PubMed: 3261146]46,X,dup(X)(pter -> q27::q23 -> qter)mat.Mother had identical karyotype but grandmother was mosaic. Patient had multiple malformations.Aberration: Simple translocationPositive band
- Stambolian D, Sellinger B, Derrington D, Sargent R, Emanuel B S: Cytogenetic and molecular investigation of a balanced Xq13q translocation in a patient with retinoblastoma. AJMG 42:771-776, 1992. [PubMed: 1554012]Patient S.G.46,X,t(X;13)(q23;q13)de novo.Patient was 4 1/4 years old. Patient was delayed in gross motor development.Aberration: Reciprocal translocationMIM#: 180200Index Terms: RetinoblastomaPositive band
- Volleth M, Stumm M, Mohnike K, Kalscheuer V M, Jakubiczka S, Wieacker P.: Prefrrential inactivation of a dup(X)(q23->q27-28) chromosome in a girl with mental retardation and dysmorphy. Hum. Hered. 52:177-182, 2001. [PubMed: 11588402]46,X,dup(X)(q23q27-28).The 19 year old patient had dysmorphic features including simian creases, epicanthal folds, broad nasal root, retrognathia, ptosis, wide-spaced nipples, and oedema of the hands and feet were striking soon after birth. Slower sexual development and corresponds to P4 and B5 stages. IQ score was 49 (HAWIE).Aberration: DuplicationChromosomal Aneuploidy: Xq+
- 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 P77,B89/0658=46,X,t(X;3)(q23;p13).Aberration: Simple translocationNo band
- Yu C W, Chen H, Morrison J: Kinetics of DNA replication in a dicentric X chromosome formed by long arm to long arm fusion. Hum. Genet. 56:71-79, 1980. [PubMed: 7203483]Patient SB, 16 years old.mos 45,X/46,X,dic(X)(pter -> q23::q23 -> pter).Aberration: Dicentric chromosomePositive 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-. 0Xq230.