FAMILY WITH PARTIAL MONOSOMY 10P AND TRISOMY 10P

We report on a family with an abnormality of 10p. The propositus has m onosomy for the distal region of 10p and severe psychomotor delay, gro wth failure, congenital heart defect, multicystic kidney, grade V vesi coureteric reflux, and neurosensory hearing loss. The mother and the e lder brother of the propositus carry a balanced reciprocal translocati on (5q;10p) (q35.3;p12.3). A retarded and epileptic maternal aunt was found to have dup(10p). Study of the family history led to the success ful obstetric management of a subsequent twin pregnancy in which an af fected fetus with dup(10p) was identified and selectively terminated, while the other normal twin was delivered at term without problems. (C ) 1995 Wiley-Liss, Inc.