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Family with partial monosomy 10p and trisomy 10p

1995; Wiley; Volume: 56; Issue: 2 Linguagem: Inglês

10.1002/ajmg.1320560204

1096-8628

Kam‐Lun Ellis Hon, Cyril Chapman, Tania R. Gunn,

Genomics and Phylogenetic Studies

Abstract We report on a family with an abnormality of 10p. The propositus has monosomy for the distal region of 10p and severe psychomotor delay, growth failure, congenital heart defect, multicystic kidney, grade V vesicoureteric reflux, and neurosensory hearing loss. The mother and the elder brother of the propositus carry a balanced reciprocal translocation (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 successful obstetric management of a subsequent twin pregnancy in which an affected fetus with dup(10p) was identified and selectively terminated, while the other normal twin was delivered at term without problems. © 1995 Wiley‐Liss, Inc.