ABSTRACT
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.
Subject(s)
Adenocarcinoma/genetics , Chromosomes, Human, Pair 17 , Kidney Neoplasms/genetics , Translocation, Genetic , X Chromosome , Adenocarcinoma/pathology , Child , Humans , Karyotyping , Kidney Neoplasms/pathology , MaleABSTRACT
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.
Subject(s)
Chromosome Aberrations , Chromosomes, Human, 13-15 , Chromosomes, Human, 21-22 and Y , Trisomy , Adult , Child, Preschool , Female , Humans , Karyotyping , Male , Maternal-Fetal Exchange , PregnancyABSTRACT
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.
