Directly transmitted unbalanced chromosome abnormalities and euchromatic variants.

doi:10.1136/jmg.2004.026955

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Article

Directly transmitted unbalanced chromosome abnormalities and euchromatic variants.

Journal of medical genetics - 1 Aug 2005

Barber J C K

Abstract excerpt

In total, 200 families were reviewed with directly transmitted, cytogenetically visible unbalanced chromosome abnormalities (UBCAs) or euchromatic variants (EVs). Both the 130 UBCA and 70 EV families were divided into three groups depending on the presence or absence of an abnormal phenotype in parents and offspring. No detectable phenotypic effect was evident in 23/130 (18%) UBCA families ascertained mostly...

Topics

Chromosome Aberrations
Euchromatin
Female
Humans
Inheritance Patterns
Male
Phenotype

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Identifiers

PMID: 16061560
DOI: 10.1136/jmg.2004.026955
PMCID: PMC1736115

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