PMID- 16331572
OWN - NLM
STAT- MEDLINE
DCOM- 20090319
LR  - 20051206
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 22
IP  - 6
DP  - 2005 Dec
TI  - [Cytogenetic analysis and phenotype location analysis on the karyotype of a ring 
      chromosome 21 syndrome].
PG  - 682-3
AB  - OBJECTIVE: To 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. METHODS: Identification 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. 
      RESULTS: It 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]. CONCLUSION: The 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.
FAU - Zhu, Xing-yuan
AU  - Zhu XY
AD  - Pediatric Research Institute of Children's Hospital, Changsha, Hunan, P. R. 
      China. zxycgh@163.com
FAU - Zhao, Rui
AU  - Zhao R
FAU - Ye, Zhi-chun
AU  - Ye ZC
FAU - Peng, You-gong
AU  - Peng YG
FAU - Tan, Yue-qiu
AU  - Tan YQ
LA  - chi
PT  - English Abstract
PT  - Journal Article
PL  - China
TA  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi
JT  - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese 
      journal of medical genetics
JID - 9425197
SB  - IM
MH  - Child, Preschool
MH  - *Chromosome Aberrations
MH  - Chromosome Disorders/genetics/pathology
MH  - Chromosomes, Human, Pair 21/*genetics
MH  - Cytogenetic Analysis/*methods
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Phenotype
MH  - *Ring Chromosomes
MH  - Syndrome
EDAT- 2005/12/07 09:00
MHDA- 2009/03/20 09:00
CRDT- 2005/12/07 09:00
PHST- 2005/12/07 09:00 [pubmed]
PHST- 2009/03/20 09:00 [medline]
PHST- 2005/12/07 09:00 [entrez]
AID - 940622170 [pii]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Dec;22(6):682-3.