Simultaneous trisomy 9q3 and monosomy 5p in two children with der(5),t(5;9)(p15.1;q34.13): report of an extended family.
We present a family segregating for t(5;9)(p15.1;q34.13). Two cases with der(5),t(5;9), resulting in a partial duplication 9q34.13----qter and partial deletion of 5p15.12----pter, were ascertained. The phenotypes were consistent with features of both the cri du chat and trisomy 9q3 syndromes.
Wellesley
D
D
Clinical Genetics Department, Irrabeena and Princess Margaret Hospital, Perth, West Australia.
Young
I D
ID
Cooke
P
P
Callen
D F
DF
Hockey
A
A
D000328:Adult; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5; D002899:Chromosomes, Human, Pair 9; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009006:Monosomy; D010375:Pedigree; D014314:Trisomy