PMID- 7762970
OWN - NLM
STAT- MEDLINE
DCOM- 19950629
LR  - 20051117
IS  - 0091-7370 (Print)
IS  - 0091-7370 (Linking)
VI  - 25
IP  - 1
DP  - 1995 Jan-Feb
TI  - An atypical Turner syndrome patient with ring X chromosome mosaicism.
PG  - 60-5
AB  - Small marker chromosomes (SMC) associated with severe Turner syndrome (TS) 
      variants often represent reduced X chromosomes lacking the X inactivation center 
      (XIC), perturbed dosage compensation, and unbalanced gene expression. A TS 
      patient with mental retardation (MR), unusually short stature, facial and limb 
      malformations, and karyotypic mosaicism involving SMCs is described. Cytogenetic 
      and fluorescence in situ hybridization (FISH) studies of blood and lymphoblastoid 
      cells showed that the SMC was X-chromosome derived, contained a functional 
      centromere, and had ring formation. Karyotypes of 45/46,X,r(X) in blood cells and 
      45,X/46,-XX/46,X,r(X)/47,X,r(X), + r(X) in fibroblasts were found. 
      Late-replication of the SMC was inconclusive, but the X inactivation specific 
      transcript (XIST) locus within XIC was demonstrated by fluorescent in situ 
      hybridization (FISH). Mechanisms are reviewed that can account for our patient's 
      unusual TS phenotype.
FAU - Cantu, E S
AU  - Cantu ES
AD  - Department of Pathology and Laboratory Medicine, Medical University of South 
      Carolina, Charleston 29425, USA.
FAU - Jacobs, D F
AU  - Jacobs DF
FAU - Pai, G S
AU  - Pai GS
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Ann Clin Lab Sci
JT  - Annals of clinical and laboratory science
JID - 0410247
RN  - 0 (DNA Probes)
SB  - IM
MH  - Adult
MH  - Cells, Cultured
MH  - DNA Probes/genetics
MH  - Dosage Compensation, Genetic
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Mosaicism/*genetics
MH  - *Ring Chromosomes
MH  - Turner Syndrome/*genetics
MH  - *X Chromosome
EDAT- 1995/01/01 00:00
MHDA- 1995/01/01 00:01
CRDT- 1995/01/01 00:00
PHST- 1995/01/01 00:00 [pubmed]
PHST- 1995/01/01 00:01 [medline]
PHST- 1995/01/01 00:00 [entrez]
PST - ppublish
SO  - Ann Clin Lab Sci. 1995 Jan-Feb;25(1):60-5.