Family with partial monosomy 10p and trisomy 10p
| Autor: | Tania R. Gunn, Cyril Chapman, Ellis Hon |
|---|---|
| Rok vydání: | 1995 |
| Předmět: |
Heart Defects
Congenital Male congenital hereditary and neonatal diseases and abnormalities Pediatrics medicine.medical_specialty Monosomy Hearing loss Hearing Loss Sensorineural Aneuploidy Trisomy Biology Kidney Translocation Genetic medicine Humans Abnormalities Multiple Family history Genetics (clinical) Twin Pregnancy Genetics Chromosomes Human Pair 10 Infant Newborn medicine.disease Pedigree Karyotyping dup Chromosomes Human Pair 5 medicine.symptom Psychomotor Disorders Aunt |
| Zdroj: | American journal of medical genetics. 56(2) |
| ISSN: | 0148-7299 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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