title: Family with partial monosomy 10p and trisomy 10p.
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.
authors.affiliation: Department of Paediatrics, School of Medicine, University of Auckland, New Zealand.
authors.forename: E
authors.initials: E
authors.lastname: Hon
authors.forename: C
authors.initials: C
authors.lastname: Chapman
authors.forename: T R
authors.initials: TR
authors.lastname: Gunn
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002879:Chromosomes, Human, Pair 10; D002895:Chromosomes, Human, Pair 5; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D007668:Kidney / Q000002:abnormalities; D008297:Male; D009006:Monosomy; D010375:Pedigree; D011596:Psychomotor Disorders / Q000235:genetics; D014178:Translocation, Genetic; D014314:Trisomy