PMID- 15337477
OWN - NLM
STAT- MEDLINE
DCOM- 20041029
LR  - 20131121
IS  - 0003-3995 (Print)
IS  - 0003-3995 (Linking)
VI  - 47
IP  - 3
DP  - 2004 Jul-Sep
TI  - Turner syndrome female with a small ring X chromosome lacking the XIST, an 
      unexpectedly mild phenotype and an atypical association with alopecia 
      universalis.
PG  - 305-13
AB  - Rearranged X chromosome in Turner syndrome (TS) are generally well tolerated but 
      in cases of ring X chromosomes and of X/autosome translocations the incidence of 
      mental retardation and other congenital abnormalities can be significantly 
      higher. These abnormal phenotypes can be ascribed to failed or partial X 
      inactivation. Here, we report a 10-year-old female who was referred for a 
      cytogenetic analysis because she developed an alopecia universalis. The patient, 
      of normal intelligence, had been found to have traits of TS, especially short 
      stature. A first cytogenetic analysis showed a no mosaic 45,X karyotype. Since, 
      the risk of developing gonadoblastoma in TS patients with mosaicism for a Y 
      derivative chromosome and because association of alopecia universalis and TS is 
      uncommon, fluorescence in situ hybridization (FISH) was performed to search for a 
      second cell population. Our patient was found to have a mosaic 45,X/46,X,+r. FISH 
      analysis using sex chromosome probes permitted us to identify the very small 
      marker as a ring X chromosome, detected in 90% of cells. The ring appeared to be 
      formed almost totally of alphoid sequences with breakpoints in the 
      juxtacentromeric region. The r(X) does not include the XIST locus and may, 
      therefore, not be subject to X-inactivation. Unexpectedly mild phenotype in our 
      patient and its association with alopecia universalis will be discussed.
FAU - Bouayed Abdelmoula, N
AU  - Bouayed Abdelmoula N
AD  - Laboratoire d'Histologie Embryologie, Faculte de Medecine de Sfax, avenue Magida 
      Boulila, Sfax CP 3028, Tunisia. nouha_abdelmoulabouayed@yahoo.fr
FAU - Portnoi, M F
AU  - Portnoi MF
FAU - Amouri, A
AU  - Amouri A
FAU - Arladan, A
AU  - Arladan A
FAU - Chakroun, M
AU  - Chakroun M
FAU - Saad, A
AU  - Saad A
FAU - Hchicha, M
AU  - Hchicha M
FAU - Turki, H
AU  - Turki H
FAU - Rebai, T
AU  - Rebai T
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
PL  - Netherlands
TA  - Ann Genet
JT  - Annales de genetique
JID - 0370562
RN  - 0 (RNA, Long Noncoding)
RN  - 0 (RNA, Untranslated)
RN  - 0 (XIST non-coding RNA)
SB  - IM
MH  - Abnormalities, Multiple/genetics
MH  - Alopecia/classification/*genetics
MH  - Child
MH  - Chromosomes, Human, X/genetics/*ultrastructure
MH  - Fallopian Tubes/abnormalities
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - *Mosaicism
MH  - Ovary/abnormalities
MH  - Phenotype
MH  - RNA, Long Noncoding
MH  - RNA, Untranslated/*genetics
MH  - Turner Syndrome/*genetics
RF  - 31
EDAT- 2004/09/01 05:00
MHDA- 2004/10/30 09:00
CRDT- 2004/09/01 05:00
PHST- 2003/10/30 00:00 [received]
PHST- 2004/03/25 00:00 [accepted]
PHST- 2004/09/01 05:00 [pubmed]
PHST- 2004/10/30 09:00 [medline]
PHST- 2004/09/01 05:00 [entrez]
AID - S0003399504000346 [pii]
AID - 10.1016/j.anngen.2004.03.008 [doi]
PST - ppublish
SO  - Ann Genet. 2004 Jul-Sep;47(3):305-13. doi: 10.1016/j.anngen.2004.03.008.