Yunis E, Silva R, Giraldo A
Ann Genet. 1976 Mar;19(1):57-60.
A stillborn male fetus having a trisomy of the short arm of chromosome No 10 is described. The father is a carrier of the reciprocal translocation 46XY,t(10;21) (10pter leads to 10p11::21p11 leads to 21qter). The clinical picture included growth retardation, bilateral cleft lip and palate, micrognathia, short neck, microphalus and bilateral clubbed feet. The long bones were markedly thinned with spontaneous fractures. Autopsy findings included pulmonary hypoplasia and renal dysplasia. Previous reports of trisomy 10 and trisomy of the short arm of chromosome 10 are discussed.
本文描述了一名10号染色体短臂三体的死产男胎。父亲是46XY,t(10;21)(10pter→10p11::21p11→21qter)相互易位的携带者。临床表现包括生长发育迟缓、双侧唇腭裂、小颌畸形、短颈、小头畸形和双侧马蹄内翻足。长骨明显变薄并伴有自发性骨折。尸检结果包括肺发育不全和肾发育异常。文中还讨论了既往关于10号染色体三体和10号染色体短臂三体的报道。