Family with partial monosomy 10p and trisomy 10p
- 27 March 1995
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 56 (2) , 136-140
- https://doi.org/10.1002/ajmg.1320560204
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.Keywords
This publication has 15 references indexed in Scilit:
- Familial 10p trisomy resulting from a maternal pericentric inversionAmerican Journal of Medical Genetics, 1994
- Simultaneous partial monosomy 10p and trisomy 5q in a case of hypoparathyroidism.Journal of Medical Genetics, 1992
- DiGeorge anomaly associated with 10p deletionAmerican Journal of Medical Genetics, 1991
- Hypoparathyroidism and T cell immune defect in a patient with 10p deletion syndromeThe Journal of Pediatrics, 1986
- Distal deletion of the short arm of chromosome No. 10: A case reportJournal of Human Genetics, 1983
- Partial monosomy of chromosome 10 short arms.Journal of Medical Genetics, 1983
- Clinicopathologic conference: A newborn monozygotic twin with abnormal facial appearance and respiratory insufficiencyAmerican Journal of Medical Genetics, 1981
- A child trisomic for the distal part of chromosome 14q.Archives of Disease in Childhood, 1980
- DELETION OF THE SHORT ARM OF CHROMOSOME NO. 10Acta Paediatrica, 1977
- C-Group Chromosome Abnormality (? 10p-)American Journal of Diseases of Children, 1970