NEW X-LINKED SYNDROME OF MENTAL-RETARDATION, GYNECOMASTIA, AND OBESITY IS LINKED TO DXS255

被引：53

作者：

WILSON, M

MULLEY, J

GEDEON, A

ROBINSON, H

TURNER, G

机构：

[1] PRINCE WALES HOSP,DEPT MED GENET,RANDWICK,NSW 2031,AUSTRALIA

[2] ADELAIDE CHILDRENS HOSP INC,DEPT HISTOPATHOL,CYTOGENET UNIT,ADELAIDE,SA 5006,AUSTRALIA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 40卷 / 04期

关键词：

X-LINKED MENTAL RETARDATION OBESITY; GYNECOMASTIA; LINKAGE ANALYSIS; DXS255;

D O I：

10.1002/ajmg.1320400405

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe 14 males from 3 successive generations in a family who have X-linked mental retardation (XLMR), obesity, gynecomastia, speech difficulties, emotional lability, tapering fingers, and small feet. Linkage analysis using markers spread along the X chromosome demonstrated a gene localisation close to the centromere. Maximum lod scores for markers near the centromere, all at theta = 0.00, were 1.36 for DXS7, 4.82 for DXS255, 2.79 for DXS14, 2.09 for DXS72, and 1.46 for DXYS1. The closest flanking markers which showed recombination were DXS84 and DXS94, defining the physical localisation within Xp21.1q22. DXS255 was fully informative with lod-1 confidence interval for theta of 0.00-0.12. Clinical findings and linkage data in this family distinguish it from the Borjeson-Forssman-Lehmann syndrome and other previously described XLMR syndromes.

引用

页码：406 / 413

页数：8

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