Fryns J P, Pedersen J C, Duyck H, Fabry G, Van den Berghe H
Eur J Pediatr. 1980 Sep;134(3):201-4. doi: 10.1007/BF00441473.
A partial deletion of the short arm of chromosome 9 is reported in a female newborn and a 12.5 year-old male. The features expressed by both patients, and especially the peculiar type of the craniofacial dysmorphism, confirm the existence of a typical clinical syndrome associated with this partial autosomal monosomy.
据报道,一名女新生儿和一名12.5岁男性存在9号染色体短臂的部分缺失。两名患者所表现出的特征,尤其是颅面部畸形的特殊类型,证实了与这种部分常染色体单体性相关的典型临床综合征的存在。