Deletion of chromosome 9 in the region q22q32 in a male baby with karyotype 46XY: report of a case

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.

Del(9)(q22q32); Deletion of chromosome 9; Karyotype 46XY del(9)


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