Cytogenetic analysis and phenotype location analysis on the karyotype of a ring chromosome 21 syndrome.
- Author:
Xing-yuan ZHU
1
;
Rui ZHAO
;
Zhi-chun YE
;
You-gong PENG
;
Yue-qiu TAN
Author Information
- Publication Type:Journal Article
- MeSH: Child, Preschool; Chromosome Aberrations; Chromosome Disorders; genetics; pathology; Chromosomes, Human, Pair 21; genetics; Cytogenetic Analysis; methods; Humans; In Situ Hybridization, Fluorescence; Karyotyping; Male; Phenotype; Ring Chromosomes; Syndrome
- From: Chinese Journal of Medical Genetics 2005;22(6):682-683
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo search the forming cause and the correlation between the clinical phenotype and chromosome band by the cytogenetic analysis on a case of ring chromosome 21 syndrome.
METHODSIdentification and location of 21 ring chromosome were performed with the G-banding, C-banding, N-banding, high-resolution banding and fluorescence in situ hybridization (FISH) techniques.
RESULTSIt was found that the karyotypes of the patient's parents are normal. The patient's karyotype is 46,XY, r(21)[91]/46,XY,r(21;21)(p11q22.3;p11q22.3) [5]/45,XY,-21[4].
CONCLUSIONThe clinical phenotype of ring chromosome 21 syndrome is related to the deletion of distal segment of 21q, and the abnormal sexual development of male is related with the deletion of 21q22.3.
