Prader-Willi syndrome in a brother and sister without cytogenetic or detectable molecular genetic abnormality at chromosome 15q11q13
✍ Scribed by Heleneörstavik, Karen ;Tangsrud, Svein Erik ;Kiil, Ragnhild ;Hansteen, Inger-Lise ;Steen-Johnsen, Jon ;Cassidy, Suzanne B. ;Martony, Anna ;Anvret, Maria ;Tommerup, Niels ;Bröndum-Nielsen, Karen
- Publisher
- John Wiley and Sons
- Year
- 1992
- Tongue
- English
- Weight
- 487 KB
- Volume
- 44
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
We report on a 12-year-old boy and his 7-yearold sister with the Prader-Willi syndrome. They both had severe initial hypotonia with feeding problems and later developed a n increasing appetite. Both sibs have almondshaped eyes, triangular mouth, hypogonadism, retarded growth, and mental retardation. An older brother suffered from severe hypotonia and died at 7 days of age. The children have normal chromosomes by high-resolution technique and have inherited the same chromosomes 15 short arm polymorphisms from their parents. The family was informative for one of four DNA markers specific for the 15qllq13 region. No deletion was found using this marker. The parents were healthy and unrelated. Autosomal recessive inheritance or a paternally inherited submicroscopic deletion are possible explanations for the sib occurrence in this family. O 1992 Wiiey-Lisa, inc.