SUMMARY OF THE 1993 ASHG ANCILLARY MEETING - RECENT RESEARCH ON CHROMOSOME-4P SYNDROMES AND GENES

被引:26
作者
ESTABROOKS, LL
BREG, WR
HAYDEN, MR
LEDBETTER, DH
MYERS, RM
WYANDT, HE
YANGFENG, TL
HIRSCHHORN, K
机构
[1] SMITHKLINE BEECHAM CLIN LABS,VAN NUYS,CA
[2] STANFORD UNIV,SCH MED,DEPT GENET,STANFORD,CA 94305
[3] YALE UNIV,SCH MED,DEPT HUMAN GENET,NEW HAVEN,CT 06510
[4] UNIV BRITISH COLUMBIA,DEPT MED GENET,VANCOUVER,BC,CANADA
[5] NATL CTR HUMAN GENOME RES,BETHESDA,MD
[6] BOSTON UNIV,DEPT BIOL,BOSTON,MA 02215
[7] BOSTON UNIV,DEPT PEDIAT,BOSTON,MA 02215
[8] BOSTON UNIV,CTR HUMAN GENET,BOSTON,MA 02215
[9] SCH MED BOSTON,BOSTON,MA
[10] CUNY MT SINAI SCH MED,DEPT PEDIAT,NEW YORK,NY 10029
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 55卷 / 04期
关键词
CHROMOSOME; 4P; REVIEW; WOLF-HIRSCHHORN SYNDROME;
D O I
10.1002/ajmg.1320550412
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
The following is a summary of presentations given during an ancillary meeting to the 1993 American Society of Human Genetics Meeting in New Orleans, LA. This ancillary meeting, entitled ''Recent Research on Chromosome 4p Syndromes and Genes,'' reviewed the history of the Wolf-Hirschhorn syndrome (WHS), the natural history of patients with WHS, and the smallest region of deletion associated with the WHS. The proximal 4p deletion syndrome and the duplication 4p syndrome were also described and advice was offered regarding detection of chromosome 4p deletions, duplications, and rearrangements. The current status of the physical map of chromosome 4p with emphasis on the genes that map to the 4p16 region was presented along with a preliminary phenotypic map of 4p16. The goal of this format was to provide a comprehensive review of the clinical presentations, diagnostic capabilities, and genetic mapping advances involving chromosome 4p. (C) 1995 Wiley-Liss, Inc.
引用
收藏
页码:453 / 458
页数:6
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