期刊
CYTOGENETIC AND GENOME RESEARCH
卷 119, 期 1-2, 页码 154-157出版社
KARGER
DOI: 10.1159/000109633
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资金
- NIGMS NIH HHS [R01 GM061150] Funding Source: Medline
- NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES [R01GM061150] Funding Source: NIH RePORTER
Parental chromosome studies were referred to us after initial finding of a balanced translocation involving chromosomes 4 and 15 in their phenotypically abnormal male child (cytogenetic analysis was done at another laboratory). In addition to the same 4;15 translocation, the father also had an interstitial deletion of the long arm of one chromosome 6 and a marker chromosome. In this article, we report a neocentromere on this marker, which was determined to be composed of chromosome 6 material by FISH. The child's karyotype was re-interpreted to be unbalanced due to the presence of the abnormal chromosome 6, but without the marker. The clinical phenotype associated with the interstitial deletion of chromosome 6 is also reported. Copyright (C) 2007 S. Karger AG, Basel.
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