Raynaud M, Ronce N, Ayrault A D, Francannet C, Malpuech G, Moraine C
Laboratoire de Génétique Moléculaire, Hôpital Bretonneau, Tours, France.
Am J Med Genet. 1998 Mar 19;76(3):255-61.
X-linked mental retardation (XLMR) includes distinct entities in which mental deficiency is either associated with specific abnormalities (syndromal) or not (nonsyndromal). We report on the clinical, neuropsychological, and laboratory findings and linkage analysis in one family with XLMR and isolated growth hormone deficiency (IGHD). Mental retardation was associated in 3 males and 5 females with short stature, microcephaly, and particular facial traits, i.e., high curved forehead, midface hypoplasia, and concave nasal bridge with nasal end of normal size and broad traits. Significant lod scores (Zmax >2) at a recombination fraction of theta = 0 were detected for 6 marker loci between DXS178 (Xq22.1) and DXS292 (Xq27.2). This mapping region overlaps that of XLMR with IGHD, recently reported by Hamel et al. [1996: Am J Med Genet 64:35-41] (Xq24-q27.3), and that of agammaglobulinemia with IGHD (Xq21.33-q22.2). This observation may confirm the suspicion of a gene involved in growth hormone regulation being localized in Xq.
X连锁智力迟钝（XLMR）包括不同的类型，其中智力缺陷要么与特定异常相关（综合征型），要么与之无关（非综合征型）。我们报告了一个患有XLMR和孤立性生长激素缺乏症（IGHD）的家族的临床、神经心理学、实验室检查结果及连锁分析。3名男性和5名女性的智力迟钝与身材矮小、小头畸形及特殊面部特征相关，即高弧形额头、面中部发育不全、鼻梁凹陷且鼻尖大小正常、特征宽阔。在DXS178（Xq22.1）和DXS292（Xq27.2）之间的6个标记位点，在重组率θ = 0时检测到显著的lod分数（Zmax >2）。该定位区域与Hamel等人[1996年：《美国医学遗传学杂志》64:35 - 41]最近报道的伴有IGHD的XLMR（Xq24 - q2
