دورية أكاديمية
Apparent dominant transmission of the Rubinstein-Taybi syndrome.
| العنوان: | Apparent dominant transmission of the Rubinstein-Taybi syndrome. |
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| المؤلفون: | Marion RW; Department of Pediatrics, Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY 10467., Garcia DM, Karasik JB |
| المصدر: | American journal of medical genetics [Am J Med Genet] 1993 May 15; Vol. 46 (3), pp. 284-7. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7708900 Publication Model: Print Cited Medium: Print ISSN: 0148-7299 (Print) Linking ISSN: 01487299 NLM ISO Abbreviation: Am J Med Genet Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: New York, NY : Wiley-Liss Original Publication: New York, Liss 1977-2002. |
| مواضيع طبية MeSH: | Chromosomes, Human, Pair 16* , Genes, Dominant*, Rubinstein-Taybi Syndrome/*genetics, Adult ; Chromosome Deletion ; Female ; Genetic Linkage ; Humans ; Infant ; X Chromosome |
| مستخلص: | The cause of the Rubinstein-Taybi syndrome (RTS), a multiple congenital anomalies/mental retardation (MCA/MR) syndrome first described in 1963, remains obscure. Recently, a deletion of chromosomal material at 16p13.3 has been found in some patients with the disorder, but no such deletion can be identified in the majority of affected individuals. Although the disorder has been well documented to be concordant in at least 7 monozygotic twin pairs and in one non-twin sib pair, only one clear-cut case of parent-to-child transmission has been reported previously. We present here a mother and daughter, both of whom appear to be affected with RTS, strongly suggesting either autosomal or X-linked dominant transmission. The paucity of previous cases of parent-to-child transmission may be related to either decreased fertility or decreased fitness in affected individuals. |
| تواريخ الأحداث: | Date Created: 19930515 Date Completed: 19930610 Latest Revision: 20101118 |
| رمز التحديث: | 20240627 |
| DOI: | 10.1002/ajmg.1320460309 |
| PMID: | 8488872 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 0148-7299 |
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| DOI: | 10.1002/ajmg.1320460309 |