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

doi:10.1002/(sici)1096-8628(19980106)75:1<75::aid-ajmg15>3.0.co;2-p

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Article

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

American journal of medical genetics - 6 Jan 1998

Li S Y, Gibson L H, Gomez K, Pober B R, Yang-Feng T L

Abstract excerpt

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....

Topics

Chromosome Aberrations
Chromosome Banding
Chromosome Disorders
Chromosome Mapping
Chromosomes, Human, Pair 5
Female
Humans
In Situ Hybridization, Fluorescence
Infant, Newborn
Male
Phenotype
Pregnancy
Trisomy
Twins, Monozygotic

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