| A case of incomplete DiGeorge syndrome associated with partial monosomy 22q11.1 due to maternal 14;22 translocation. | |
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MedLine Citation:
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PMID: 2634137 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report a boy with some clinical symptoms compatible with a diagnosis of incomplete DiGeorge syndrome. He had a dismorphic face, micrognathia, cleft palate, and heart anomalies similar to DiGeorge syndrome, but lacked aplasia of the thymus or hypoparathyroidism typical of the syndrome. High-resolution banding analysis revealed that his karyotype was 45,XY,-14,-22, +der(14)(14pter----14q32.32::22q11.21----22qter), the consequence of a maternal reciprocal translocation between chromosomes 14 and 22. Precise localization of the gene responsible for the present DiGeorge syndrome was assigned to subband 22q11.1. |
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Authors:
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S Nukina; Y Nishimura; A Kinugasa; T Sawada; K Hamaoka; J Inazawa; S Tsuda; T Abe |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Jinrui idengaku zasshi. The Japanese journal of human genetics Volume: 34 ISSN: 0021-5074 ISO Abbreviation: Jinrui Idengaku Zasshi Publication Date: 1989 Sep |
Date Detail:
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Created Date: 1990-05-30 Completed Date: 1990-05-30 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 0420105 Medline TA: Jinrui Idengaku Zasshi Country: JAPAN |
Other Details:
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Languages: eng Pagination: 235-41 Citation Subset: IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Chromosome Banding Chromosome Deletion* Chromosomes, Human, Pair 14* Chromosomes, Human, Pair 22* DiGeorge Syndrome / genetics*, radiography Female Humans Immunologic Deficiency Syndromes / genetics* Infant Karyotyping Male Thymus Gland / radiography Translocation, Genetic* X-Rays |
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