UNBALANCED T(4-11)(Q32-Q23) IN A 34-YEAR-OLD MAN WITH MANIFESTATIONS OF DISTAL MONOSOMY 11Q AND TRISOMY 4Q SYNDROMES

We present a 34-year-old man with an unbalanced translocation between the long arms of chromosome 4 and chromosome 11. He had manifestations of monosomy 11(q23)-minor facial anomalies, abnormal head shape, cryp torchidism; trisomy 4(q32)-hirsutism, renal disease; and manifestation s attributable to both imbalances-heart disease, musculoskeletal anoma lies, and mental retardation. FISH studies showed that the chromosome 11q23.3 translocation breakpoint was distal to the rare folate sensiti ve fragile site (FRA11B). The patient is the oldest reported with both imbalance of 4q+ and 11q-. Am. J. Med, Genet. 70:357-360, 1997. (C) 1 997 Wiley-Liss, Inc.