703 DE NOVO 9: 11 TRANSLOCATION IN A SPORADIC CASE OF TRICHORHINO PHALANGEAL (I) SYNDROME
| Autor: | Celia I. Kaye, Carol Booth, William F Maurer |
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| Rok vydání: | 1981 |
| Předmět: | |
| Zdroj: | Pediatric Research. 15:559-559 |
| ISSN: | 1530-0447 0031-3998 |
| Popis: | Tricho-rhino phalangeal syndrome (TRPS) is a multisystem malformation complex characterized by dysmorphic features, unusual hair, mild mental retardation and specific skeletal anomalies. Both autosomal dominant and autosomal recessive forms have been described. We have recently seen a 14-year-old white female with classic findings of this condition. Height was 134.3 cm (≪3%). The nose was pear shaped. Hair was sparse and grew slowly. The fingers were deviated at the proximal interphalangeal joints; x-rays showed cone-shaped epiphyses at the bases of the middle phalanges. She complained of right hip pain; x-rays showed findings compatible with avascular necrosis of the femoral head (Legg Perthes disease), a common finding in TRPS. There were no exostoses or nevi. The girl has learning difficulties and attends special education classes, but has normal intelligence. The parents and two brothers are unaffected. Chromosome study revealed a 46,XXt(9;11)(p22:q21) karyotype. Both parents have normal karyotypes. The concurrence of a sporadic case of a genetic condition and a de novo chromosomal translocation in a single patient suggests a possibly causal relationship. Chromosome markers have been described in Prader Willi syndrome and in hereditary bilateral retinoblastoma, two conditions which sometimes demonstrate Mendelian patterns of inheritance. Further patients need be studied to determine the usefulness of chromosome markers in TRPS. |
| Databáze: | OpenAIRE |
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