Document Detail

Xp-duplications with and without sex reversal.
MedLine Citation:
PMID:  8557267     Owner:  NLM     Status:  MEDLINE    
Duplications in Xp including the DSS (dosage sensitive sex reversal) region cause male to female sex reversal. We investigated two patients from families with Xp duplications. The first case was one of two sisters with karyotype 46,XY,der(22),t(X;22)(p11.3;p11)mat and unambiguous female genitalia. The living sister was developmentally retarded, and showed multiple dysmorphic features and an acrocallosal syndrome. The second case was a boy with a maternally inherited direct duplication of Xp21.3-pter with the breakpoint close to the DSS locus. He had multiple abnormalities and micropenis, but otherwise unambiguous male genitalia. We performed quantitative Southern blot analysis with probes from Xp22.13 to p21.2 to define the duplicated region. Clinical, cytogenetic, and molecular data from both patients were compared with those of previously reported related cases. A comparison of the extragenital symptoms revealed no differences between patients with or without sex reversal. In both cases, the symptoms were non-specific. Among 22 patients with a duplication in Xp, nine had unambiguous female genitalia and a well-documented duplication of the DSS region. Two patients with duplication of DSS showed ambiguous external genitalia. From these data, we conclude that induction of testicular tissue may start in these patients, but that the type of genitalia depends on the degree of subsequent degeneration by a gene in DSS.
A Baumstark; G Barbi; M Djalali; C Geerkens; B Mitulla; T Mattfeldt; J C de Almeida; F R Vargas; J C Llerena Júnior; W Vogel; W Just
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Human genetics     Volume:  97     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  1996 Jan 
Date Detail:
Created Date:  1996-02-23     Completed Date:  1996-02-23     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  79-86     Citation Subset:  IM    
Abteilung Medizinische Genetik, Universität Ulm, Germany.
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MeSH Terms
Abnormalities, Multiple / genetics*
Child, Preschool
Chromosome Mapping
Chromosomes, Human, Pair 22
Genitalia, Female / anatomy & histology,  pathology
Genitalia, Male / anatomy & histology,  pathology
Nuclear Family
Sex Chromosome Aberrations / genetics*
Sex Reversal, Gonadal*
Translocation, Genetic
X Chromosome*

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