Partial monosomy 15q due to de novo t(15;22)(q15;p11).
We report a 2-years-old infant who presented psychomotor delay and facial dysmorphic features. He has a partial monosomy of 15q resulting from de novo t(15;22)(q15;p11). Up to now three other cases with a similar 15q monosomy have been reported, but the present case is the first one with a "pure" monosomy 15q.
Mori
M A
MA
Spanish Colaborative Study of Congenital Malformations, ECEMC, Catedra de Anatonia II, Facultad de Medicina, Universidad Complutense, Madrid.
Rodriguez
L
L
Pinel
I
I
Casas
J M
JM
Diaz de Bustamante
A
A
Martinez-Frias
M L
ML
D002675:Child, Preschool; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D006801:Humans; D008297:Male; D009006:Monosomy; D014178:Translocation, Genetic