title: Partial monosomy 15q due to de novo t(15;22)(q15;p11).
abstract: 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.
authors.affiliation: Spanish Colaborative Study of Congenital Malformations, ECEMC, Catedra de Anatonia II, Facultad de Medicina, Universidad Complutense, Madrid.
authors.forename: M A
authors.initials: MA
authors.lastname: Mori
authors.forename: L
authors.initials: L
authors.lastname: Rodriguez
authors.forename: I
authors.initials: I
authors.lastname: Pinel
authors.forename: J M
authors.initials: JM
authors.lastname: Casas
authors.forename: A
authors.initials: A
authors.lastname: Diaz de Bustamante
authors.forename: M L
authors.initials: ML
authors.lastname: Martinez-Frias
mesh_terms: D002675:Child, Preschool; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D006801:Humans; D008297:Male; D009006:Monosomy; D014178:Translocation, Genetic