Barreiro E, Delicado A, López Pajares I, Cordero L, Junco E, Castroviejo I P
An Esp Pediatr. 1977 Jan;10(1):112-7.
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.
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”。
