Clinical utility of skin karyotype

Jornal Brasileiro de Patologia e Medicina Laboratorial

Luiza E. Dorfman¹  Agnes F. R. P. Silva¹  Giorgio A. Paskulin¹  Rafael F. M. Rosa¹  Paulo R. G. Zen¹ 

关键词: karyotype;    fibroblasts;    human chromosomes pair 13;    chromosome aberrations;    genetic counseling;    cariótipo;    fibroblastos;    cromossomos humanos par 13;    aberrações cromossômicas;    aconselhamento genético;   

DOI  :  10.5935/1676-2444.20150038

来源: SciELO

【 摘 要 】

ABSTRACTWe report the case of a patient with Patau syndrome, diagnosed by skin karyotype, emphasizing the applications and importance of this test. The pregnancy morphology ultrasound showed face defects and of central nervous system and heart chambers asymmetry. In the postnatal evaluation it was identified microcephaly, single central nostril, and other malformations. We performed skin karyotype that resulted in full trisomy 13. Our report highlights the possibility of performing karyotype examination in cases when it is no longer possible to obtain a blood sample, thus providing the correct diagnosis and genetic counseling for the family.

【 授权许可】

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