18号染色体短臂缺失。1例报告（作者译）
[18 short arm deletion. Report of one case (author's transl)].
作者信息
Barreiro E, Delicado A, López Pajares I, Cordero L, Junco E, Castroviejo I P
出版信息
An Esp Pediatr. 1977 Jan;10(1):112-7.
PMID:842972
Abstract
A two month old boy with multiple malformations: mental retardation, microcephaly, hyperterloism, displasic ears, hypospadias, unilateral cryptorchidism and holoprosencephaly is presented. In leukocytes culture, patient shows a deletion of the short arm of a 18 chromosome. This aberration apears "de novo" in this patient.
摘要
一名两个月大的男婴，伴有多种畸形：智力发育迟缓、小头畸形、多指畸形、耳部发育异常、尿道下裂、单侧隐睾及前脑无裂畸形。在白细胞培养中，患者显示18号染色体短臂缺失。这种畸变在该患者中为“新发”。
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