| Xp-duplications with and without sex reversal. | |
MedLine Citation:
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PMID: 8557267 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
Authors:
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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:
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Type: Journal Article; Review |
Journal Detail:
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Title: Human genetics Volume: 97 ISSN: 0340-6717 ISO Abbreviation: Hum. Genet. Publication Date: 1996 Jan |
Date Detail:
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Created Date: 1996-02-23 Completed Date: 1996-02-23 Revised Date: 2005-11-16 |
Medline Journal Info:
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Nlm Unique ID: 7613873 Medline TA: Hum Genet Country: GERMANY |
Other Details:
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Languages: eng Pagination: 79-86 Citation Subset: IM |
Affiliation:
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Abteilung Medizinische Genetik, Universität Ulm, Germany. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Child, Preschool Chromosome Mapping Chromosomes, Human, Pair 22 Female Genitalia, Female / anatomy & histology, pathology Genitalia, Male / anatomy & histology, pathology Humans Infant Karyotyping Male Nuclear Family Pedigree Sex Chromosome Aberrations / genetics* Sex Reversal, Gonadal* Translocation, Genetic X Chromosome* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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