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| GENETIC-HETEROGENEITY AMONG CRANIOSYNOSTOSIS SYNDROMES - MAPPING THE SAETHRE-CHOTZEN SYNDROME LOCUS BETWEEN D7S513 AND D7S516 AND EXCLUSION OF JACKSON-WEISS AND CROUZON SYNDROME LOCI FROM 7P |
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| Author(s): LEWANDA AF, COHEN MM, JACKSON CE, TAYLOR EW, LI X, BELOFF M, DAY D, CLARREN SK, ORTIZ R, GARCIA C, HAUSELMAN E, FIGUEROA A, WULFSBERG E, WILSON M, WARMAN ML, PADWA BL, WHITEMAN DAH, MULLIKEN JB, JABS EW |
| Source: GENOMICS Volume: 19 Issue: 1 Pages: 115-119 Published: JAN 1 1994 |
| Times Cited: 35 References: 29 |
| Abstract: Saethre-Chotzen, Crouzon, and Jackson-Weiss syndromes are craniosynostotic autosomal dominant conditions with a wide variability in expression. Saethre-Chotzen has been mapped to chromosome 7p by L. A. Brueton et al. (1992, J. Med. Genet. 29: 681-685), the Greig cephalopolysyndactyly gene was identified at 7p13 by A. Vortkamp et al. (1991, Nature 352: 539-540), and many cases of craniosynostosis have been associated with 7p deletions. We confirmed linkage of the Saethre-Chotzen syndrome locus to chromosome 7p. The tightest linkage was to locus D7S493 (Z = 5.04, theta = 0.00), and linkage and haplotype analyses refined the location of the gene to the region between D7S513 and D7S516. Jackson-Weiss and Crouzon syndrome loci were analyzed using markers spanning the entire 7p arm and were excluded, proving that they are nonallelic to Saethre-Chotzen, Greig cephalopolysyndactyly, and the del(7p) syndromes. (C) 1994 Academic Press, Inc. |
| Document Type: Article |
| Language: English |
Addresses:
1. JOHNS HOPKINS UNIV, SCH MED, CTR MED GENET, DEPT PEDIAT, BALTIMORE, MD 21287 USA
2. JOHNS HOPKINS UNIV, SCH MED, CTR MED GENET, DEPT MED, BALTIMORE, MD 21205 USA
3. JOHNS HOPKINS UNIV, SCH MED, CTR MED GENET, DEPT SURG, BALTIMORE, MD 21205 USA
4. JOHNS HOPKINS UNIV, SCH MED, CTR MED GENET, DEPT PSYCHIAT, BALTIMORE, MD 21205 USA
5. DALHOUSIE UNIV, DEPT ORAL BIOL, HALIFAX, NS CANADA
6. DALHOUSIE UNIV, DEPT PEDIAT, HALIFAX, NS CANADA
7. HENRY FORD HOSP, DEPT MED, DIV CLIN & MOLEC GENET, DETROIT, MI 48202 USA
8. TEXAS DEPT HLTH, GENET SCREENING & COUNSELING SERV, DENTON, TX USA
9. UNIV WASHINGTON, SCH MED, DEPT PEDIAT, SEATTLE, WA 98195 USA
10. HOSP INFANTIL MEXICO DR FEDERICO GOMEZ, DEPT GENET, MEXICO CITY, DF MEXICO
11. UNIV ILLINOIS, CTR CRANIOFACIAL ANOMALIES, CHICAGO, IL USA
12. UNIV MARYLAND, DEPT PEDIAT, DIV HUMAN GENET, BALTIMORE, MD 21201 USA
13. CTR HUMAN GENET, BAR HARBOR, ME USA
14. CHILDRENS HOSP, DIV PLAST SURG, CTR CRANIOFACIAL, BOSTON, MA USA
15. CHILDRENS HOSP, DIV GENET, BOSTON, MA USA |
| Publisher: ACADEMIC PRESS INC JNL-COMP SUBSCRIPTIONS, 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 |
| Subject Category: Biotechnology & Applied Microbiology; Genetics & Heredity |
| IDS Number: NA601 |
| ISSN: 0888-7543 |
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