Psychometric assessment of families with X-linked mental retardation

被引：0
作者：
van Roosmalen, T
Smits, APT
Thoonen, GHJ
Hamel, BCJ
Assman-Hulmans, CFCH
Gabreels, FJM
机构：
[1] Univ Nijmegen Hosp, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands
[2] Univ Nijmegen Hosp, Child Neurol Ctr, NL-6500 HB Nijmegen, Netherlands
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1999年 / 83卷 / 04期
关键词：
X-linked mental retardation; psychometric assessment; cognitive profiles; psychological profiles;
D O I：
10.1002/(SICI)1096-8628(19990402)83:4<264::AID-AJMG6>3.0.CO;2-R
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
As part of an integrated approach to DNA-linkage analysis in X-linked mental retardation (XLMR), 29 members of five families suspected of having XLMR underwent psychometric assessment. Mental retardation was confirmed in all participants. The range of mental retardation varied from mild to profound within and between families. In addition, these preliminary results indicated family-specific cognitive profiles in MRX45 and MRX46. The fact that two nonoverlapping loci were involved provides strong evidence that specific cognitive profiles are linked to specific loci (genes) in mental retardation. We therefore recommend the application of standardised psychometric tests for the assessment of XLMR. (C) 1999 Wiley-Liss, Inc.
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页码：264 / 267
页数：4
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