Familial dup(5)(q15q21) associated with normal and abnormal phenotypes

Autor:	Teresa L. Yang-Feng, Shuan-Yow Li, Kevin J. Gomez, Lisa H. Gibson, Barbara R. Pober
Rok vydání:	1998
Předmět:	Genetics congenital hereditary and neonatal diseases and abnormalities medicine.diagnostic_test Monozygotic twin Chromosome Biology Phenotype Chromosome analysis Gene duplication dup Cosmid medicine Genetics (clinical) Fluorescence in situ hybridization
Zdroj:	American Journal of Medical Genetics. 75:75-77
ISSN:	1096-8628 0148-7299
DOI:	10.1002/(sici)1096-8628(19980106)75:1<75::aid-ajmg15>3.0.co;2-p
Popis:	We studied a familial dup(5q) present in a phenotypically normal father and his monozygotic twin daughters with different abnormal phenotypes. High-resolution chromosome analysis suggested that the duplicated segment was of region q15-21, which seems to be the smallest dup(5q) reported thus far. This dup(5q) was confirmed by fluorescence in situ hybridization with a chromosome 5 painting library and 5q cosmid clones. The presence of the dup(5q) in a normal father suggested that the duplication itself may be harmless. The anomalies in the twins may be due to processes other than this chromosome change.
Databáze:	OpenAIRE
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