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Literature DB >> 8045561

Molecular cytogenetic analysis of a duplication Xp in a male: further delineation of a possible sex influencing region on the X chromosome.

P N Rao¹, K Klinepeter, W Stewart, R Hayworth, R Grubs, M J Pettenati.

Abstract

We describe a male infant with severe mental retardation and autism with a duplication of the short arm of the X chromosome. Chromosome painting confirmed the origin of this X duplication. Molecular cytogenetic analysis with fluorescence in situ hybridization (FISH) identified one copy of the zinc finger protein on the X chromosome (ZFX) and two copies of the steroid sulfatase gene (STS), further delineating the breakpoints. Based on cytogenetic and molecular comparisons of cases from the literature of sex-reversal in dup(X),Y patients and our patient, we suggest that a possible secondary sex-influencing gene involved in the regulation of sex determination or testis morphogenesis is present at the distal Xp21.1 to p21.2 region.

Entities: Disease Species

Mesh：

Year: 1994 PMID： 8045561 DOI： 10.1007/bf00202860

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

24 in total

1. Sex reversal in a child with a 46,X,Yp+ karyotype: support for the existence of a gene(s), located in distal Xp, involved in testis formation.

Authors: T Ogata; J R Hawkins; A Taylor; N Matsuo; J Hata; P N Goodfellow
Journal: J Med Genet Date: 1992-04 Impact factor: 6.318

2. X-linked mental retardation and characteristic physical features in two brothers with duplication Xp22-Xpter.

Authors: C Cianchetti; F Muntoni; A M Falchi; A Nucaro; G Sannio-Fancello; A Cao; M G Marrosu
Journal: Am J Med Genet Date: 1992 Apr 15-May 1

3. Parental origin and mechanism of formation of X chromosome structural abnormalities: four cases determined with RFLPs.

Authors: H X Deng; J H Xia; M Ishikawa; N Niikawa
Journal: Jinrui Idengaku Zasshi Date: 1990-09

4. A genetic map of chromosome 20q12-q13.1: multiple highly polymorphic microsatellite and RFLP markers linked to the maturity-onset diabetes of the young (MODY) locus.

Authors: C B Rothschild; G Akots; R Hayworth; M J Pettenati; P N Rao; P Wood; F M Stolz; I Hansmann; K Serino; T P Keith
Journal: Am J Hum Genet Date: 1993-01 Impact factor: 11.025

5. XY gonadal dysgenesis: genetic heterogeneity based upon clinical observations, H-Y antigen status and segregation analysis.

Authors: J L Simpson; N Blagowidow; A O Martin
Journal: Hum Genet Date: 1981 Impact factor: 4.132

6. Genetic evidence equating SRY and the testis-determining factor.

Authors: P Berta; J R Hawkins; A H Sinclair; A Taylor; B L Griffiths; P N Goodfellow; M Fellous
Journal: Nature Date: 1990-11-29 Impact factor: 49.962

7. Physical localization of chromosome 20 markers using somatic cell hybrid cell lines and fluorescence in situ hybridization.

Authors: P N Rao; R Hayworth; G Akots; M J Pettenati; D W Bowden
Journal: Genomics Date: 1992-10 Impact factor: 5.736

8. Inherited partial X chromosome duplication in a mentally retarded male.

Authors: K B Nielsen; F Langkjaer
Journal: J Med Genet Date: 1982-06 Impact factor: 6.318

Review 9. Duplication of the short arm of the X chromosome in mother and daughter.

Authors: C M Tuck-Muller; J E Martinez; D A Batista; W G Kearns; W Wertelecki
Journal: Hum Genet Date: 1993-05 Impact factor: 4.132

10. A gene mapping to the sex-determining region of the mouse Y chromosome is a member of a novel family of embryonically expressed genes.

Authors: J Gubbay; J Collignon; P Koopman; B Capel; A Economou; A Münsterberg; N Vivian; P Goodfellow; R Lovell-Badge
Journal: Nature Date: 1990-07-19 Impact factor: 49.962

7 in total

Review 1. Chromosomal disorders and autism.

Authors: C Gillberg
Journal: J Autism Dev Disord Date: 1998-10

Review 2. Hypomelanosis of Ito and X;autosome translocations: a unifying hypothesis.

Authors: E Hatchwell
Journal: J Med Genet Date: 1996-03 Impact factor: 6.318

3. A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities.

Authors: L Telvi; A Ion; J C Carel; I Desguerre; M Piraud; A M Boutin; J Feingold; G Ponsot; M Fellous; K McElreavey
Journal: J Med Genet Date: 1996-09 Impact factor: 6.318