A case with Waardenburg syndrome presenting with two separate translocations--one reciprocal and one complex.
A 2-month-old Turkish male with Waardenburg syndrome who has two de novo translocations is described. The translocations are a reciprocal translocation between chromosomes 1 and 8, and a more complex translocation involving chromosomes 4 and 7.
Dundar
M
M
Lowther
G
G
Colgan
J
J
Ozkul
Y
Y
Candemir
Z
Z
Saatci
C
C
Kurtoglu
S
S
Watt
J
J
Morrison
N
N
D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D002894:Chromosomes, Human, Pair 4; D002897:Chromosomes, Human, Pair 7; D002898:Chromosomes, Human, Pair 8; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008297:Male; D014178:Translocation, Genetic; D014849:Waardenburg Syndrome / Q000235:genetics*