Leschot N J, De Nef J J, Geraedts J P, Becker-Bloemkolk M J, Talma A, Bijlsma J B, Verjaal M
Clin Genet. 1979 Sep;16(3):205-14. doi: 10.1111/j.1399-0004.1979.tb00991.x.
A clinical description is given of a syndrome present in three postnatally and two prenatally detected cases with partial trisomy 16p, caused by a familial translocation t(16;21) (p11;q22). The most consistent features of this syndrome are: low birth weight, small head circumference, low-set ears, palato(gnatho)schisis, micrognathia, thumb-agenesis or hypoplasia, hypertonia, overlapping fingers, single umbilical artery, and psychomotor retardation. The clinical picture was identical to that described by Roberts & Duckett (1978) for a single case.
本文描述了一种综合征的临床表现，该综合征出现在3例出生后和2例产前检测出的部分16号染色体短臂三体病例中，病因是家族性易位t(16;21)(p11;q22)。该综合征最一致的特征是：低出生体重、小头围、低位耳、腭裂（颌裂）、小颌畸形、拇指缺如或发育不全、肌张力亢进、手指重叠、单脐动脉和精神运动发育迟缓。临床表现与罗伯茨和达克特（1978年）描述的一例病例相同。
