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| CYTOGENETIC EVIDENCE THAT THE SAETHRE-CHOTZEN GENE MAPS TO 7P21.2 |
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| Author(s): REARDON W, MCMANUS SP, SUMMERS D, WINTER RM |
| Source: AMERICAN JOURNAL OF MEDICAL GENETICS Volume: 47 Issue: 5 Pages: 633-636 Published: OCT 1 1993 |
| Times Cited: 38 References: 10 |
| Abstract: Evidence for the location of the Saethre-Chotzen acrocephalosyndactyly mutation on 7p21-22 is based on genetic linkage studies in families segregating for this autosomal dominant disorder. Linkage studies were guided by several reports of chromosome deletions in this region giving rise to craniosynostosis and some other manifestations of Saethre-Chotzen syndrome. We report on a family where a father and daughter carry an apparently balanced t(7;10)(p21.2;q21.2) translocation (de novo in the father) and have the Saethre-Chotzen syndrome. These observations support the localization of the Saethre-Chotzen gene to 7p21.2. (C) 1993 Wiley-Liss, Inc. |
| Document Type: Article |
| Language: English |
| Reprint Address: REARDON, W (reprint author), INST CHILD HLTH, MOTHERCARE DEPT CLIN GENET & FETAL MED, 30 GUILFORD ST, LONDON WC1N 1EH, ENGLAND |
Addresses:
1. QUEEN ELIZABETH HOSP CHILDREN, REG CYTOGENET UNIT, LONDON E2 8PS, ENGLAND
2. UNIV DUBLIN TRINITY COLL, COLL GENET, DUBLIN 2, IRELAND |
| Publisher: WILEY-LISS, DIV JOHN WILEY & SONS INC 605 THIRD AVE, NEW YORK, NY 10158-0012 |
| Subject Category: Genetics & Heredity |
| IDS Number: MA176 |
| ISSN: 0148-7299 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |