PMID- 9137884
OWN - NLM
STAT- MEDLINE
DCOM- 19970612
LR  - 20190816
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 51
IP  - 3
DP  - 1997 Mar
TI  - Supernumerary marker chromosomes (SMCs) in Turner syndrome are mostly derived 
      from the Y chromosome.
PG  - 184-90
AB  - DNA and FISH (fluorescence in situ hybridization) analysis were carried out in 12 
      patients with stigmata of Turner syndrome to determine whether the Supernumerary 
      Marker Chromosome (SMC) found cytogenetically in each of these patients was 
      derived from the Y chromosome. The presence of a Y chromosome in these patients 
      may predispose them to develop gonadoblastoma. PCR-Southern blot analysis, 
      followed by FISH, was used to detect the presence of Y chromosome material. The 
      Sex determining Region Y (SRY), Testis Specific Protein Y-encoded (TSPY) and 
      Y-chromosome RNA Recognition Motif (YRRM) genes, which map at Yp11.31, 
      Yp11.1-11.2 and Yp11.2/Yq11.21-11.23, respectively, were selected as markers, 
      because they span the whole Y chromosome, and more importantly, they are 
      considered to be involved in the development of gonadoblastoma. It was shown that 
      in 12 patients, all of whom had an SMC, the SMC of 11 was derived from the Y 
      chromosome. Furthermore, the presence of the SRY, TSPY and YRRM gene sequences 
      was determined and FISH analysis confirmed the Y origin of the SMCs. The 
      methodology described in this report is a rapid, reliable and sensitive approach 
      which may be easily applied to determine the Y origin of an SMC carried in Turner 
      syndrome. The identification of an SMC is important for the clinical management 
      and prognostic counseling of these patients with Turner syndrome.
FAU - Patsalis, P C
AU  - Patsalis PC
AD  - Department of Cytogenetics, Cyprus Institute of Neurology and Genetics, Nicosia, 
      Cyprus. patsalis@mdrtc.cing.ac.cy
FAU - Hadjimarcou, M I
AU  - Hadjimarcou MI
FAU - Velissariou, V
AU  - Velissariou V
FAU - Kitsiou-Tzeli, S
AU  - Kitsiou-Tzeli S
FAU - Zera, C
AU  - Zera C
FAU - Syrrou, M
AU  - Syrrou M
FAU - Lyberatou, E
AU  - Lyberatou E
FAU - Tsezou, A
AU  - Tsezou A
FAU - Galla, A
AU  - Galla A
FAU - Skordis, N
AU  - Skordis N
LA  - eng
PT  - Journal Article
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
RN  - 0 (Cell Cycle Proteins)
RN  - 0 (DNA Primers)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Genetic Markers)
RN  - 0 (Nuclear Proteins)
RN  - 0 (RBMY1A1 protein, human)
RN  - 0 (RNA-Binding Proteins)
RN  - 0 (SRY protein, human)
RN  - 0 (Sex-Determining Region Y Protein)
RN  - 0 (TSPY1 protein, human)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Cell Cycle Proteins
MH  - DNA Primers
MH  - DNA-Binding Proteins/genetics
MH  - Female
MH  - Genetic Markers
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - *Nuclear Proteins
MH  - RNA-Binding Proteins/genetics
MH  - Sequence Analysis, DNA
MH  - Sex-Determining Region Y Protein
MH  - *Transcription Factors
MH  - Turner Syndrome/*genetics
MH  - Y Chromosome
EDAT- 1997/03/01 00:00
MHDA- 1997/03/01 00:01
CRDT- 1997/03/01 00:00
PHST- 1997/03/01 00:00 [pubmed]
PHST- 1997/03/01 00:01 [medline]
PHST- 1997/03/01 00:00 [entrez]
AID - 10.1111/j.1399-0004.1997.tb02450.x [doi]
PST - ppublish
SO  - Clin Genet. 1997 Mar;51(3):184-90. doi: 10.1111/j.1399-0004.1997.tb02450.x.