Parvari R, Mumm S, Galil A, Manor E, Bar-David Y, Carmi R
Genetics Institute, Soroka Medical Center and the Ben-Gurion University Faculty of Health Sciences, Beer-Sheva, Israel.
Am J Med Genet. 1999 Apr 2;83(4):302-7. doi: 10.1002/(sici)1096-8628(19990402)83:4<302::aid-ajmg13>3.0.co;2-p.
A four-year-old boy with severe psychomotor retardation, facial appearance consistent with the fragile X syndrome, hypotonia, and overgrowth was found to have a deletion including the fragile X gene (FMR1). The breakpoints of the deletion were established between CDR1 and sWXD2905 (approximately 200 kb apart) at Xq27.1 (centromeric) and between DXS8318 (612-1078L) and DXS7847 (576-291L) (approximately 250 kb apart) at Xq28, about 500 kb telomeric to the FMR1 gene. The total length of the deletion is approximately 8.5 Mb. The propositus's mother, who was found to be a carrier of the deletion, showed very mild mental impairment. Except for mental retardation, which is a common finding in all cases reported with similar deletions of chromosome Xq, this patient had generalized overgrowth, exceeding the 97th centile for height and weight. Obesity and increased growth parameters have been reported in other patients with deletions either overlapping or within a distance of 0.5 Mb from the deletion in the present patient. Thus, it is suggested that a deletion of the 8-Mb fragment centromeric to the FMR1 gene might have an effect on growth.
一名患有严重精神运动发育迟缓、面容符合脆性X综合征、肌张力减退且身材高大的4岁男孩，被发现存在一个包含脆性X基因（FMR1）的缺失。该缺失的断点确定在Xq27.1（着丝粒）的CDR1和sWXD2905之间（相距约200 kb），以及在Xq28的DXS8318（612 - 1078L）和DXS7847（576 - 291L）之间（相距约250 kb），位于FMR1基因端粒方向约500 kb处。缺失的总长度约为8.5 Mb。先证者的母亲被发现是该缺失的携带者，表现出非常轻微的智力损害。除了智力发育迟缓（这在所有报道的类似Xq染色体缺失病例中都很常见）外，该患者还全身过度生长，身高和体重超过第97百分位。在其他与本患者缺失重叠或距离本患者缺失0.5 Mb范围内的缺失患者中，也有肥胖和生长参数增加的报道。因此，提示FMR1基因着丝粒方向8 Mb片段的缺失可能对生长有影响。
