Partial trisomy 17q and monosomy 9p due to a familial translocation.
Described is an infant with partial trisomy 17q and monosomy 9p [46,XX,-9,+der(9)t(9;17)(p21;q23)] due to adjacent-1 segregation of a maternal balanced reciprocal translocation. Characteristic clinical features of both partial 17q trisomy and monosomy 9p are present, but the former syndrome is less recognisable in this infant than in previously reported cases due to the concomitant 9p monosomy.
Cotter
P D
PD
Cytogenetics Department, Princess Mary Children's Hospital, Auckland, New Zealand.
Stewart
N L
NL
D002675:Child, Preschool; D002886:Chromosomes, Human, Pair 17; D002899:Chromosomes, Human, Pair 9; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D009006:Monosomy; D010641:Phenotype; D014178:Translocation, Genetic / Q000235:genetics*; D014314:Trisomy