| THE MAPPING OF A GENE FOR CRANIOSYNOSTOSIS - EVIDENCE FOR LINKAGE OF THE SAETHRE-CHOTZEN SYNDROME TO DISTAL CHROMOSOME-7P |
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| Author(s): BRUETON LA, VANHERWERDEN L, CHOTAI KA, WINTER RM |
| Source: JOURNAL OF MEDICAL GENETICS Volume: 29 Issue: 10 Pages: 681-685 Published: OCT 1992 |
| Times Cited: 69 References: 31 |
| Abstract: Craniosynostosis or premature closure of the cranial sutures is a common abnormality occurring in about 1 in 2500 children. There is evidence of mendelian inheritance in some 20% of cases. Published reports of patients with structural alterations of the short arm of chromosome 7 have suggested that two or more genes for craniosynostosis may be situated in this region. The Saethre-Chotzen syndrome (acrocephalosyndactyly type III) is one of the most common autosomal dominant craniosynostosis syndromes. Results of molecular genetic linkage studies provide evidence for localisation of the gene responsible to distal chromosome 7p. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV LONDON, INST CHILD HLTH, MOTHERCARE UNIT CLIN GENET & FETAL MED, 30 GUILFORD ST, LONDON WC1N 1EH, ENGLAND
2. NORTHWICK PK HOSP & CLIN RES CTR, KENNEDY GALTON CTR, HARROW HA1 3UJ, MIDDX ENGLAND |
| Publisher: BRITISH MED JOURNAL PUBL GROUP, BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON, ENGLAND WC1H 9JR |
| Subject Category: Genetics & Heredity |
| IDS Number: JR786 |
| ISSN: 0022-2593 |