| Combined trisomy 9 and Ullrich-Turner syndrome in a girl with a 46,X,der(9)t(X;9)(q12;q32) karyotype. | |
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MedLine Citation:
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PMID: 9843037 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Total trisomy 9 is a rare disorder with most patients dying before age 4 months. Herein, we report a 9-year-old girl with mental retardation, short stature, a peculiar face and other minor defects, who was diagnosed as having an unbalanced de novo X-autosome translocation with a 46,X,der(9)t(X;9)(q12;q32) karyotype resulting in almost a full trisomy 9(pter-->q32) and a partial monosomy X(q12-->pter). The clinical findings of our patient, almost exclusively resemble those of trisomy 9p and the Ullrich-Turner syndromes and has few manifestations of 9q trisomy. BrdU replication studies by Giemsa staining showed an earlier replication of 9p in the translocated chromosome, but a marked late-replication pattern for almost the complete 9q arm involved in the translocation. FISH studies confirmed the presence of three 9 centromeres, excluded the presence of the X centromere signal in the rearranged chromosome, and showed that both Xq telomeric sequences were present. BrdU replication studies by FISH showed an usual pattern of striking late-replication around the XIC of the derivative chromosome, but early replication of the chromosome 9p segment and distal Xq. |
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Authors:
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S Canún; O Mutchinick; L G Shaffer; C Fernández |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics Volume: 80 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1998 Nov |
Date Detail:
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Created Date: 1999-02-25 Completed Date: 1999-02-25 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: 199-203 Citation Subset: IM |
Affiliation:
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Departamento de Genética, Hospital General Dr Manuel Gea González, México City, México. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Child Chromosomes, Human, Pair 9* Female Humans Karyotyping Translocation, Genetic* Trisomy* Turner Syndrome / genetics* X Chromosome* |
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