Familial dup(5)(q15q21) associated with normal and abnormal phenotypes.
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.
Li
S Y
SY
Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520-8005, USA.
Gibson
L H
LH
Gomez
K
K
Pober
B R
BR
Yang-Feng
T L
TL
D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D014314:Trisomy / Q000235:genetics; D014430:Twins, Monozygotic