Familial Prader-Willi syndrome with apparently normal chromosomes
- 1 September 1987
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 28 (1) , 37-43
- https://doi.org/10.1002/ajmg.1320280106
Abstract
We report on 4 sibs (2F, 2M) with Prader-Willi syndrome (PWS). Diagnosis was made clinically on the basis of history, behavior, and physical findings in 3 of the sibs. The other child had died at age 10 months with a history and clinical findings typical of first phase of PWS. Results of chromosome studies on the parents and surviving sibs were normal. The implications of this unusual familial occurrence for our understanding of PWS are discussed.Keywords
This publication has 14 references indexed in Scilit:
- Clinical and cytogenetic survey of 39 individuals with Prader‐Labhart‐Willi syndromeAmerican Journal of Medical Genetics, 1986
- CHROMOSOME 15 IN PRADER‐WILLI SYNDROMEDevelopmental Medicine and Child Neurology, 1985
- Clinical and cytogenetic studies of the Prader-Willi syndrome: Evidence of phenotype-karyotype correlationHuman Genetics, 1985
- Chromosome 15 anomalies and the Prader-Willi syndrome: Cytogenetic analysisHuman Genetics, 1984
- Cytogenetic studies of familial Prader-Willi syndromeHuman Genetics, 1984
- Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome. Analysis of seven cases after varying ascertainmentHuman Genetics, 1983
- The cytogenetic controversy in the Prader‐Labhart‐Willi syndromeAmerican Journal of Medical Genetics, 1982
- Chromosome 15 in floppy infantsArchives of Disease in Childhood, 1981
- Deletions of Chromosome 15 as a Cause of the Prader–Willi SyndromeNew England Journal of Medicine, 1981
- Prader-Willi syndrome: A resumé of 32 cases including an instance of affected first cousins,one of whom is of normal stature and intelligenceThe Journal of Pediatrics, 1972