Report of a patient with fragile X syndrome unexpectedly identified by karyotype analysis

Autor: Floriani, Maiara A., Boas, Marcelo R. Vilas, Rosa, Rafael Fabiano M., Trevisan, Patrícia, Dorfman, Luiza Emy, Rosa, Rosana C. M., Zen, Tatiana D., Zen, Paulo Ricardo G.

Publikováno v: Jornal Brasileiro de Patologia e Medicina Laboratorial v.53 n.2 2017
Jornal Brasileiro de Patologia e Medicina Laboratorial
Sociedade Brasileira de Patologia (SBP)
instacron:SBP
Jornal Brasileiro de Patologia e Medicina Laboratorial, Volume: 53, Issue: 2, Pages: 108-109, Published: APR 2017

Fragile X syndrome is considered the main known cause of inherited learning disabilities and it is characterized by mutations in the FMR1 gene. Our aim was to report an unexpected detection of a patient with fragile X syndrome by GTG-Banding karyotyp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::720093be72e3282e383ca01e49f1909b
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442017000200108

Use of the fluid obtained by puncture of cystic hygroma: an alternative method for fetal karyotyping

Autor: Floriani, Maiara A., Dorfman, Luiza E., Koshiyama, Dayane B., Zen, Tatiana D., Telles, Jorge Alberto B., Cunha, André C., Zen, Paulo Ricardo G., Rosa, Rafael Fabiano M.

Publikováno v: Jornal Brasileiro de Patologia e Medicina Laboratorial v.52 n.6 2016
Jornal Brasileiro de Patologia e Medicina Laboratorial
Sociedade Brasileira de Patologia (SBP)
instacron:SBP
Jornal Brasileiro de Patologia e Medicina Laboratorial, Volume: 52, Issue: 6, Pages: 391-392, Published: DEC 2016

The aim of our study aim was to report the case of a fetus with Turner syndrome (TS) diagnosed by karyotype from cystic hygroma (CH) fluid, highlighting the applications and importance of this procedure. First-trimester screening revealed an increase

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::f220691d3e4e60551a4073f5c1804d6a
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442016000600391