Lazjuk G I, Lurie I W, Kirillova I A, Zaletajev D V, Gurevich D B, Shved I A, Ostrovskaya T I
Clin Genet. 1985 Aug;28(2):122-9. doi: 10.1111/j.1399-0004.1985.tb00371.x.
The observation of partial trisomy for 5q31-5qter and partial monosomy for the same segment in two offspring within the same family is presented. Their normal mother was a balanced carrier of a reciprocal translocation 46,XX,t(5;10) (q31.3;q26). The trisomic female had craniofacial dysplasia, a short neck, clinodactyly of the 5th fingers, a small umbilical hernia, arhinencephalia, cerebellar hypoplasia, atrial septal defect, an accessory spleen, bifid uterus and vagina, hypoplastic ovaries. Potter syndrome with cystic dysplasia of the left kidney and agenesis of the right, urethral atresia, uterus unicornus with utero-urethral fistula, true hermaphroditism with two ovaries and one testicle were found in her stillborn sister. Analysis of the manifestations of monosomy 5q and trisomy 5q in the same family supports a well known fact that the effects of deletions are more pronounced than those of duplications for the same segments.
本文报道了在同一个家庭的两个后代中观察到的5q31-5qter部分三体和同一节段部分单体的情况。他们的正常母亲是46,XX,t(5;10)(q31.3;q26)相互易位的平衡携带者。三体女性有颅面部发育异常、短颈、第5指弯曲、小脐疝、无脑回、小脑发育不全、房间隔缺损、副脾、双子宫和阴道、卵巢发育不全。在她的死产妹妹中发现了波特综合征，伴有左肾囊性发育异常和右肾缺如、尿道闭锁、单角子宫伴子宫尿道瘘、具有两个卵巢和一个睾丸的真两性畸形。对同一家庭中5q单体和5q三体表现的分析支持了一个众所周知的事实，即对于相同节段，缺失的影响比重复更明显。
