855 COHEN SYNDROME IN ISRAEL: GENETIC AND ETHNIC BACKGROUND
| Autor: | Eltan Friedman, Efraim Gazit, Joseph Sack, Gerald W Fischer |
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| Rok vydání: | 1985 |
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| Zdroj: | Pediatric Research. 19:253A-253A |
| ISSN: | 1530-0447 0031-3998 |
| DOI: | 10.1203/00006450-198504000-00885 |
| Popis: | Cohen syndrome, a congenital disorder first described in 1973, is characterized by universal occurrence of mental retardation of variable degree and facial anomalies (short filtrum, high nasal bridge, high arched palate, prominent central incisors, malformed ears) as well as narrow hands and feet. To determine the genetic and ethnic background of this disorder, we evaluated 32 affected children from 25 Israeli families. The sex ratio was equal. In the 7 families with more than one affected child, one set of identical twins with Cohen syndrome was noted. Of the remaining 6 families with multiple affected siblings, in only two were the affected children HLA-identical. By contrast, in one family two HLA-identical siblings were discordant for Cohen syndrome. No affected child had a parent with the disorder. The ethnic background of affected children, expressed as ratio of Ashkenazi background (European) to Sephardic background (Middle-Eastern) was 2.5:1, in contrast to the 0.7:1 ratio among Israeli births in general. We conclude that Cohen syndrome is probably an autosotnal recessive disorder which is not linked to the HLA locus but which has a predisposition for certain ethnic backgrounds (Ashkenazi). |
| Databáze: | OpenAIRE |
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