PMID- 27387888
OWN - NLM
STAT- MEDLINE
DCOM- 20170309
LR  - 20220410
IS  - 1573-7330 (Electronic)
IS  - 1058-0468 (Print)
IS  - 1058-0468 (Linking)
VI  - 33
IP  - 9
DP  - 2016 Sep
TI  - Molecular cytogenetic characterization of two Turner syndrome patients with 
      mosaic ring X chromosome.
PG  - 1161-8
LID - 10.1007/s10815-016-0761-x [doi]
AB  - PURPOSE: In the present study, we reported two cases of TS with mosaic ring X 
      chromosome showing common clinical characteristics of TS like growth retardation 
      and ovarian dysfunction. The purpose of the present study was to cytogenetically 
      characterize both cases. METHODS: Whole blood culture and G-banding were 
      performed for karyotyping the cases following standard protocol. Origin of the 
      ring chromosome and degree of mosaicism were further determined by fluorescence 
      in situ hybridization (FISH). Breakpoints and loss of genetic material in 
      formation of different ring X chromosomes r (X) in cases were determined with the 
      help of cytogenetic microarray. RESULTS: Cases 1 and 2 with ring chromosome were 
      cytogenetically characterized as 45, X [114]/46Xr (X) (p22.11q21.32) [116] and 
      45, X [170]/46, Xr (X) (p22.2q21.33) [92], respectively. Sizes of these ring X 
      chromosomes were found to be ~75 and ~95 Mb in cases 1 and 2, respectively, using 
      visual estimation as part of cytogenetic observation. In both cases, we observed 
      breakpoints on Xq chromosome were within relatively narrow region between Xq21.33 
      and Xq22.1 compared to regions in previously reported cases associated with 
      ovarian dysgenesis. CONCLUSIONS: Our observation agrees with the fact that 
      despite of large heterogeneity, severity of the cases with intact X-inactive 
      specific transcript (XIST) is dependent on degree of mosaicism and extent of Xq 
      deletion having crucial genes involved directly or indirectly in various 
      physiological involving ovarian cyclicity.
FAU - Chauhan, Pooja
AU  - Chauhan P
AD  - Centre for Genetic Disorders, Institute of Science, Banaras Hindu University, 
      Varanasi, India.
FAU - Jaiswal, Sushil Kumar
AU  - Jaiswal SK
AD  - Centre for Genetic Disorders, Institute of Science, Banaras Hindu University, 
      Varanasi, India.
FAU - Lakhotia, Anjali Rani
AU  - Lakhotia AR
AD  - Institute of Medical Sciences, Banaras Hindu University, Varanasi, India.
FAU - Rai, Amit Kumar
AU  - Rai AK
AD  - Centre for Genetic Disorders, Institute of Science, Banaras Hindu University, 
      Varanasi, India. akrai10@gmail.com.
LA  - eng
PT  - Journal Article
DEP - 20160707
PL  - Netherlands
TA  - J Assist Reprod Genet
JT  - Journal of assisted reproduction and genetics
JID - 9206495
SB  - IM
MH  - Adult
MH  - Chromosome Banding
MH  - Chromosome Deletion
MH  - Chromosomes, Human, X/*genetics
MH  - *Cytogenetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Middle Aged
MH  - Mosaicism
MH  - Ovarian Diseases/*genetics/pathology
MH  - Ring Chromosomes
MH  - Turner Syndrome/diagnosis/*genetics/pathology
PMC - PMC5010817
OTO - NOTNLM
OT  - Cytogenetic microarray
OT  - Fluorescence in situ hybridization (FISH)
OT  - Ovarian dysfunction
OT  - Ring X chromosome
OT  - Turner syndrome
EDAT- 2016/07/09 06:00
MHDA- 2017/03/10 06:00
PMCR- 2017/09/01
CRDT- 2016/07/09 06:00
PHST- 2016/04/18 00:00 [received]
PHST- 2016/06/20 00:00 [accepted]
PHST- 2016/07/09 06:00 [entrez]
PHST- 2016/07/09 06:00 [pubmed]
PHST- 2017/03/10 06:00 [medline]
PHST- 2017/09/01 00:00 [pmc-release]
AID - 10.1007/s10815-016-0761-x [pii]
AID - 761 [pii]
AID - 10.1007/s10815-016-0761-x [doi]
PST - ppublish
SO  - J Assist Reprod Genet. 2016 Sep;33(9):1161-8. doi: 10.1007/s10815-016-0761-x. 
      Epub 2016 Jul 7.