Prader-Willi syndrome in a brother and sister without cytogenetic or detectable molecular genetic abnormality at chromosome 15q11q13
| Autor: | Steen-Johnsen J, Martony A, Kiil R, Hansteen Il, Karen Helene Ørstavik, Suzanne B. Cassidy, Anvret M, Tangsrud Se, Niels Tommerup, Karen Brøndum-Nielsen |
|---|---|
| Rok vydání: | 1992 |
| Předmět: |
Adult
Male Genetics Chromosomes Human Pair 15 congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Infant Newborn Cytogenetics Chromosome Karyotype DNA Biology Molecular Genetic Abnormality Sister Brother Hypotonia Chromosome Banding Genetic marker medicine Humans Female medicine.symptom Child Prader-Willi Syndrome Genetics (clinical) |
| Zdroj: | American Journal of Medical Genetics. 44:534-538 |
| ISSN: | 1096-8628 0148-7299 |
| Popis: | We report on a 12-year-old boy and his 7-year-old sister with the Prader-Willi syndrome. They both had severe initial hypotonia with feeding problems and later developed an increasing appetite. Both sibs have almond-shaped 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 15q11q13 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text