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© Research
Publication : Journal of medical genetics

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

Scientific Fields
Diseases
Organisms
Applications
Technique

Published in Journal of medical genetics - 01 Sep 1996

Telvi L, Ion A, Carel JC, Desguerre I, Piraud M, Boutin AM, Feingold J, Ponsot G, Fellous M, McElreavey K

Link to Pubmed [PMID] – 8880579

J. Med. Genet. 1996 Sep;33(9):767-71

An unusual familial case of three sibs with a partial duplication of distal Xp sequences is described. The proband, an 18 year old boy, showed mental retardation, severe dysmorphic features, hypogonadotrophic hypogonadism (HHG), and hypoplastic external genitalia. His karyotype was 46,Y,inv dup(X) (p22.11–>p 22.32). The proband has two sisters each with the same inv dup(Xp) chromosome. Both sisters presented with short stature but were otherwise phenotypically normal. The abnormal X chromosome was inactive in the majority of cells examined. Southern blot dosage analysis indicated a duplication of distal Xp sequences. The proximal breakpoint is located between DXS28 and DXS41, and is therefore at least 2 Mb distal to the DSS locus. The relationship between the phenotype and the Xp duplication is discussed.

http://www.ncbi.nlm.nih.gov/pubmed/8880579