RESUMO
This report describes a chromosomal abnormality in an 8-year-old boy with renal adenocarcinoma. All tumor cells had the karyotype 46,XY, t(X;17)(p11.2;q25). This karyotype is compared with the cytogenetic descriptions of renal cell adenocarcinoma in two other pediatric patients and in adults.
Assuntos
Adenocarcinoma/genética , Cromossomos Humanos Par 17 , Neoplasias Renais/genética , Translocação Genética , Cromossomo X , Adenocarcinoma/patologia , Criança , Humanos , Cariotipagem , Neoplasias Renais/patologia , MasculinoRESUMO
Clinical and cytogenetical findings in a case of 21pter leads to 21q22.1 monosomy associated to a partial trisomy 13 are presented. The patient's mother carries a translocation t(13;21) (q22;q22). R-banding has shown that q22 band of an apparently absent chromosome 21 is distally translocated in an extra-chromosome 13 (13q-)+. Therefore the proband's monosomy 21 is not complete, but partial.
Assuntos
Aberrações Cromossômicas , Cromossomos Humanos 13-15 , Cromossomos Humanos 21-22 e Y , Trissomia , Adulto , Pré-Escolar , Feminino , Humanos , Cariotipagem , Masculino , Troca Materno-Fetal , GravidezRESUMO
Chromosomal identification by a G technique done in three patients with delection of the distal portion of short arms of chromosome 5; led to the consideration of the possibility that the segment responsible of the "cri du chat" syndrome is on the proximal portion of the band 5 p15.