科研之友
微信
新浪微博
Facebook
分享链接
摘要
this study aimed at the laboratory and imaging investigation of malformations in a male baby that presented prematurity, congenital cardiopathy, respiratory failure and congenital malformation at the time of delivery. the gestational ultrasonography showed a hypoplastic nasal bone and a minor spinal deviation at the transition between the cervical and thoracic spine. there was golf-ball in the left ventricle and, in the genitourinary tract, bilateral renal pyeloectasis was observed. cytogenetic studies revealed interstitial deletion of chromosome 9 from the segment q22q32 in the long arm, where the karyotype 46, xy, del (9) (q22q32) was identified.
