PMID- 25449084
OWN - NLM
STAT- MEDLINE
DCOM- 20150324
LR  - 20141202
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 31
IP  - 6
DP  - 2014 Dec
TI  - [Analysis of a infertile female with ring 21 chromosome using combined 
      techniques].
PG  - 761-4
LID - 10.3760/cma.j.issn.1003-9406.2014.06.018 [doi]
AB  - OBJECTIVE: To investigate clinical phenotype and genetic characteristics of a 
      30-year-old infertile female carrying a mosaic ring 21 chromosome. METHODS: A 
      combination of techniques including G-banding, C-banding, fluorescence in situ 
      hybridization (FISH) and SNP array were performed to investigate the breaking 
      point of the r(21). RESULTS: The karyotype of the patient was mos 
      46,XX,r(21)[166]/46, XX,der(21)[60]/45, XX, -21[20]/46, XX,dic r(21)[4].ish 
      del(21)(q22.2?)(21qter-, AML1+, D21S259/D21S341/D21S342+). arr 21q22.3(43 457 
      934-48 093 361) x 1, 21q22.2q22.3(40 218 429-43 457 934)x 1-2. The karyotypes of 
      her parents were both normal. CONCLUSION: Clinical phenotypes of patients 
      carrying a ring 21 mainly depends on the percentage of abnormal cells and the 
      deleted chromosomal fragment. The small uterus and oligomenorrhea in our patient 
      may be attributed to the mosaic ring 21 chromosome.
FAU - Wang, Hao
AU  - Wang H
AD  - Central Laboratory, Hangzhou First People's Hospital, Hangzhou, Zhejiang 310006, 
      P. R. China. moc2009@live.cn.
FAU - Wang, Yan
AU  - Wang Y
FAU - Wu, Lingfeng
AU  - Wu L
FAU - Xie, Lesi
AU  - Xie L
LA  - chi
PT  - Case Reports
PT  - English Abstract
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
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
RN  - Chromosome 21 ring
SB  - IM
MH  - Adult
MH  - Chromosome Banding
MH  - Chromosome Deletion
MH  - Chromosomes, Human, Pair 21/genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infertility, Female/diagnosis/*genetics
MH  - Karyotyping
MH  - Ring Chromosomes
EDAT- 2014/12/03 06:00
MHDA- 2015/03/25 06:00
CRDT- 2014/12/03 06:00
PHST- 2014/12/03 06:00 [entrez]
PHST- 2014/12/03 06:00 [pubmed]
PHST- 2015/03/25 06:00 [medline]
AID - 940631163 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2014.06.018 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Dec;31(6):761-4. doi: 
      10.3760/cma.j.issn.1003-9406.2014.06.018.