CONSTITUTIONAL DEL(19)(Q12Q13.1) IN A 3-YEAR-OLD GIRL WITH SEVERE PHENOTYPIC ABNORMALITIES AFFECTING MULTIPLE ORGAN SYSTEMS

We present the clinical, cytogenetic, and molecular studies on a const itutional deletion of 19q ascertained prenatally due to decreased feta l activity and IUGR. Chromosome analysis by GTG banding on amniocytes suggested a del(19) (q13.1q13.3), but the analysis of microsatellites by PCR demonstrated that the deletion involved the distal segment of q 12 and the proximal segment of q13.1 (15 cM). The severely affected fe male infant born at 38 weeks has clinical findings that may be related to haploinsufficiency of specific genes within 19q12.1-->q13.1 that c ontrol important processes of normal development and cell function. (C ) 1998 Wiley-Liss, Inc.