Beemer F A, de France H F, Rosina-Angelista I J, Gerards L J, Cats B P, Guyt R
Clin Genet. 1984 Sep;26(3):209-15. doi: 10.1111/j.1399-0004.1984.tb04369.x.
A family is described in which the mother's 9 pregnancies ended in the birth of 2 healthy girls, 4 spontaneous abortions and 3 infants with multiple congenital malformations as bird-headed appearance, pre- and postnatal growth deficiency, microcephaly, micrognathia with small mouth and cat-like cry. Two of the three affected sibs had complex cardiac malformations incompatible with life; the third had a bicuspid aortic valve. Chromosomal investigation revealed an abnormal karyotype: 46,XX,rec(5),dupq,inv(5)(p151q333)pat, leading to a partial monosomy 5p and partial trisomy 5q. A large pericentric inversion of chromosome 5 was found in the father: 46,XY,inv(5)(p151q333) as well as in the firstborn healthy female sib. The clinical features partly fit the partial monosomy 5p as well as the partial trisomy 5q syndrome.
本文描述了一个家庭，母亲的9次怀孕结果为：生育2名健康女孩，4次自然流产，以及3名患有多种先天性畸形的婴儿，这些畸形包括鸟头样外观、出生前后生长发育迟缓、小头畸形、小颌畸形伴小嘴以及猫叫样哭声。三名受影响的同胞中有两名患有与生命不相容的复杂心脏畸形；第三名患有二叶式主动脉瓣。染色体检查显示核型异常：46,XX,rec(5),dupq,inv(5)(p151q333)pat，导致5p部分单体性和5q部分三体性。在父亲以及头胎健康的女性同胞中发现了5号染色体的一个大的臂间倒位：46,XY,inv(5)(p151q333)。临床特征部分符合5p部分单体性以及5q部分三体性综合征。
