| 16q21 is critical for 16q deletion syndrome. | |
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MedLine Citation:
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PMID: 3378367 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A 1-year-old girl with an interstitial deletion of the long arm of chromosome 16 is reported. She was characterized by a distinct craniofacial dysmorphism, meningoencephalocele, mild hydrocephalus, short neck, broad great toes and abnormally positioned toes. High resolution GTG and RBG banding analyses revealed a karyotype: 46,XX,del(16) (q13q22) de novo. An analysis of the smallest region of overlap revealed that the critical band region for 16q deletion syndrome is 16q21. |
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Authors:
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K Naritomi; N Shiroma; Y Izumikawa; K Sameshima; S Ohdo; K Hirayama |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Clinical genetics Volume: 33 ISSN: 0009-9163 ISO Abbreviation: Clin. Genet. Publication Date: 1988 May |
Date Detail:
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Created Date: 1988-07-22 Completed Date: 1988-07-22 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: DENMARK |
Other Details:
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Languages: eng Pagination: 372-5 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, School of Medicine, University of the Ryukyus, Okinawa, Japan. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Chromosome Aberrations / genetics* Chromosome Deletion* Chromosome Disorders Chromosomes, Human, Pair 16 / ultrastructure* Female Humans Infant Syndrome |
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