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

• Autor(es):

  Reda, Seme Youssef (Universidade Federal do Paraná, Faculdade Campo Real);

  Nicareta, Jean Ricardo (UFPR).

• Fonte:

  Jornal Brasileiro de Patologia e Medicina Laboratorial; volume 44, número 5, páginas 325-328. Outubro 2008.

• Assuntos:

  Del(9)(q22q32);

  Deletion of chromosome 9;

  Karyotype 46XY del(9).

• Resumo:

  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.

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