| Duplication 6q24 leads to 6qter in an infant from a balanced paternal translocation. | |
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MedLine Citation:
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PMID: 6837629 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Duplication of 6q24 leads to 6qter was identified by GTG banding in an infant girl whose father was a balanced translocation carrier 46,XY,t(3;6)(p26 leads to q2402). At birth and at 4 mo she had proportionate short stature, microcephaly, asymmetric micrognathia, bow-shaped upper vermilion, long upper lip, submucous cleft palate, antimongoloid slant of palpebral fissures, telecanthus, prominent eyes, short neck with anterior and lateral webbing, short sternum, overlapping toes, wrist contractures, and hypertonicity. Later she was noted to have psychomotor retardation. Eleven previously published cases and our patient suggest that duplication of 6q (involving at least 6q25 leads to 6qter) produces a highly characteristic syndrome. |
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Authors:
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T R Chase; S M Jalal; J T Martsolf; W A Wasdahl |
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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: 14 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1983 Feb |
Date Detail:
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Created Date: 1983-05-05 Completed Date: 1983-05-05 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: 347-51 Citation Subset: IM |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Chromosome Aberrations* Chromosome Banding Chromosomes, Human, 6-12 and X* Female Growth Disorders / genetics Humans Infant, Newborn Karyotyping Lymphocytes / ultrastructure Male Mental Retardation / genetics* Syndrome Translocation, Genetic* |
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