| Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization. | |
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MedLine Citation:
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PMID: 8116674 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The microphthalmia with linear skin defects (MLS) syndrome (MIM 309801) is a severe developmental disorder observed in XX individuals with distal Xp segmental monosomy. The phenotype of this syndrome overlaps with that of both Aicardi (MIM 304050) and Goltz (MIM 305600) syndromes, two X-linked dominant, male-lethal disorders. Here we report the clinical, cytogenetic, and molecular characterization of 3 patients with this syndrome. Two of these patients are females with a terminal Xpter-p22.2 deletion. One of these 2 patients had an aborted fetus with anencephaly and the same chromosome abnormality. The third patient is an XX male with Xp/Yp exchange spanning the SRY gene which results in distal Xp monosomy. The extensive clinical variability observed in these patients and the results of the molecular analysis suggest that X-inactivation plays an important role in determining the phenotype of the MLS syndrome. We propose that the MLS, Aicardi, and Goltz syndromes are due to the involvement of the same gene(s), and that different patterns of X-inactivation are responsible for the phenotypic differences observed in these 3 disorders. However, we cannot rule out that each component of the MLS phenotype is caused by deletion of a different gene (a contiguous gene syndrome). |
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Authors:
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E A Lindsay; A Grillo; G B Ferrero; E J Roth; E Magenis; M Grompe; M Hultén; C Gould; A Baldini; H Y Zoghbi |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: American journal of medical genetics Volume: 49 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1994 Jan |
Date Detail:
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Created Date: 1994-03-25 Completed Date: 1994-03-25 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 229-34 Citation Subset: IM |
Affiliation:
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Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Adult Child Child, Preschool Chromosome Deletion* Female Humans In Situ Hybridization, Fluorescence Male Microphthalmos / genetics* Sex Chromosome Aberrations / genetics* Sex Reversal, Gonadal Skin Abnormalities* Syndrome X Chromosome* Y Chromosome |
| Grant Support | |
ID/Acronym/Agency:
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GM46970/GM/NIGMS NIH HHS; HG00210/HG/NHGRI NIH HHS; NS31367-01/NS/NINDS NIH HHS |
| Comments/Corrections | |
Comment In:
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Am J Med Genet. 1995 May 22;57(1):117-8
[PMID:
7645589
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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