PARTIAL TRISOMY 1Q WITH GROWTH-HORMONE DEFICIENCY AND NORMAL INTELLIGENCE

We present two sibs with partial trisomy 1 (q31.1-q32.1) due to a fami lial insertion. Patient 1 is a girl who presented at age 9 months with minor anomalies, short stature, and normal psychomotor development. K aryotype was 46,XX,der(4)ins(4;1) (p14;q31.1q32.1)pat. The father had a balanced inverted insertion of 1q into 4p, with karyotype 46,XY,ins( 4;1)(p14;q31.1q32.1). Al; age 5 years, patient 1 was found to have sho rt stature with documented growth hormone deficiency and ectopic pitui tary, Her growth velocity responded well to treatment with growth horm one, Cognitive testing at 5 9/12 years showed normal intelligence with an IQ of 90. Patient 2, the brother of patient 1, presented with intr auterine growth retardation, He has the same chromosomal insertion as his sister, with partial trisomy 1q, We suggest that there is a recogn izable phenotype of trisomy 1(q31.1-q32.1) which includes prenatal and postnatal growth retardation, narrow palpebral fissures, microphthalm ia, microstomia, pituitary abnormalities, and normal intelligence in s ome individuals. (C) 1998 Wiley-Liss, Inc.