MONOSOMY 9P24-]PTER AND TRISOMY 5Q31-]QTER - CASE-REPORT AND REVIEW OF 2 CASES

Partial deletion of the short arm of chromosome 9 (p24-->pter) and par tial duplication of the long arm of chromosome 5 (q32-->qter) were obs erved in an abnormal boy who died at age 8 weeks of a complex cyanotic cardiac defect. He also had minor anomalies, sagittal craniosynostosi s, triphalangeal thumbs, hypospadias, and a bifid scrotum. Two other i nfants with similar cytogenetic abnormalities were described previousl y. These patients had severe congenital heart defect, genitourinary an omalies, broad nasal bridge, low hairline, apparently low-set ears, sh ort neck, and triphalangeal thumbs, in common with our patient. We sug gest that combined monosomy 9p23,24-->pter and trisomy 5q31,32-->qter may constitute a clinically recognizable syndrome. (C) 1995 Wiley-Liss , Inc.