Garcia-Heras J, Corley N, Garcia M F, Kukolich M K, Smith K G, Day D W
Genetic Testing Center, Bureau of Laboratories, Texas Department of Health, Denton 76201, USA.
Am J Med Genet. 1999 Jan 29;82(3):261-4.
We describe two de novo intrachromosomal duplications of 1p. One case is a dir ins dup(1)(q21p21p31) in a newborn girl with low birth weight, growth retardation, and tetralogy of Fallot. The other is a 10-month-old girl with developmental delay, craniosynostosis, plagiocephaly, and an inv dup 1p34.1p31. Although, these patients have manifestations in common with previous cases, they do not establish a syndrome. Interestingly, all males with duplications spanning 1p31 had genital anomalies, whereas females with duplications of the same region had normal genitalia. Thus, genes within 1p31 appear to control the development of male genitalia and tentatively exclude effects of tda1, a sex-determining gene in a region of mouse chromosome 4 syntenic to 1p36 in man. However, it is necessary to identify the human tda1 homologue and candidate genes within 1p31 before drawing final conclusions.
我们描述了两例1号染色体短臂的新发染色体内重复。一例是一名低体重、生长发育迟缓且患有法洛四联症的新生儿女孩，其核型为dir ins dup(1)(q21p21p31)。另一例是一名10个月大的女孩，患有发育迟缓、颅骨缝早闭、斜头畸形，核型为inv dup 1p34.1p31。尽管这些患者具有与先前病例相同的临床表现，但并未形成一种综合征。有趣的是，所有1号染色体短臂3区1带（1p31）存在重复的男性均有生殖器异常，而相同区域存在重复的女性生殖器则正常。因此，1p31区域内的基因似乎控制着男性生殖器的发育，并且初步排除了tda1基因的影响，tda1是小鼠4号染色体上与人1号染色体短臂3区6带（1p36）同线性区域的性别决定基因。然而，在得出最终结论之前，有必要鉴定出人类tda1同源基因以及1p31区域内的候选基因。
