| Fragile X syndrome and 22q11.2 microdeletion in the same sibship. | |
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MedLine Citation:
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PMID: 11186890 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We present a family with an unusual association of two frequent genetic disorders, 22q11.2 microdeletion and fragile X syndrome, originating from the same parent. Our observation confirms the wide intrafamilial clinical variability of the 22q11.2 microdeletion and illustrates the difficulty of the clinical diagnosis for the fragile X syndrome in affected females. |
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Authors:
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C Missirian; A Moncla; M A Voelckel; V Ravix; N Philip |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics Volume: 95 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 2000 Dec |
Date Detail:
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Created Date: 2001-01-12 Completed Date: 2001-02-22 Revised Date: 2004-11-17 |
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: 358-60 Citation Subset: IM |
Affiliation:
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Département de Génétique Médicale, H pital de la Timone-Enfants, Marseille, France. cmissirian@ap-hm.fr |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Child, Preschool Chromosome Deletion* Chromosomes, Human, Pair 22 / genetics* DiGeorge Syndrome / genetics Female Fragile X Syndrome / genetics* Humans Infant Infant, Newborn Male Mental Retardation / genetics Mutation / genetics Nuclear Family* Pedigree Pregnancy Tetralogy of Fallot / genetics |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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