PMID- 8042669
OWN - NLM
STAT- MEDLINE
DCOM- 19940824
LR  - 20041117
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 50
IP  - 3
DP  - 1994 Apr 15
TI  - Novel karyotype in the Ullrich-Turner syndrome--45,X/46,X,r(X)/46,X, 
      dic(X)--investigated with fluorescence in situ hybridization.
PG  - 251-4
AB  - A 10-year-old girl with Ullrich-Turner syndrome was found to have the novel 
      karyotype 45,X/46,X,r(X)(p11q11)/46,X,dic(X)(p11). Fluorescence in situ 
      hybridization (FISH) with the alpha satellite X centromere probe established the 
      origin of the small ring chromosome. Scanning a large number of cells by 
      interphase FISH showed that the dicentric (X) was the least prevalent cell line. 
      The common breakpoint of Xp11 suggests a sequence of errors as the mechanism 
      whereby these 3 distinct cell lines have arisen.
FAU - Robson, L
AU  - Robson L
AD  - Cytogenetics Unit, Children's Hospital, Camperdown, Australia.
FAU - Jackson, J
AU  - Jackson J
FAU - Cowell, C
AU  - Cowell C
FAU - Sillence, D
AU  - Sillence D
FAU - Smith, A
AU  - Smith A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Cells, Cultured
MH  - Centromere/*ultrastructure
MH  - Child
MH  - Chromosome Aberrations/*genetics
MH  - Chromosome Disorders
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Lymphocytes/ultrastructure
MH  - *Mosaicism
MH  - *Ring Chromosomes
MH  - Turner Syndrome/*genetics
MH  - X Chromosome/*ultrastructure
EDAT- 1994/04/15 00:00
MHDA- 1994/04/15 00:01
CRDT- 1994/04/15 00:00
PHST- 1994/04/15 00:00 [pubmed]
PHST- 1994/04/15 00:01 [medline]
PHST- 1994/04/15 00:00 [entrez]
AID - 10.1002/ajmg.1320500308 [doi]
PST - ppublish
SO  - Am J Med Genet. 1994 Apr 15;50(3):251-4. doi: 10.1002/ajmg.1320500308.