PMID- 20964126
OWN - NLM
STAT- MEDLINE
DCOM- 20101123
LR  - 20101022
IS  - 1015-8146 (Print)
IS  - 1015-8146 (Linking)
VI  - 21
IP  - 3
DP  - 2010
TI  - Primary amenorrhoea in a patient with mosaicism for monosomy X and a derivative 
      X-chromosome.
PG  - 335-42
AB  - Primary amenorrhoea is defined as the absence of menstruation in phenotypic women 
      aged 16 years or older, if secondary sexual characteristics are present. X 
      chromosome abnormalities probably comprise about one half of all cases, including 
      Turner syndrome and X chromosome rearrangements. Conventional banding cytogenetic 
      methods might miss the accurate detection of structural chromosome abnormalities. 
      The fluorescence in situ hybridization (FISH) and multicolor FISH techniques are 
      required to interpret specific chromosomal rearrangement. As far as we know, we 
      report the first case with chromosome mosaicism for monosomy X and terminal 
      deletion of Xq26 with duplication of Xp11-->pter. In spite of the fact that a 
      45,X karyotype was detected in 46% of lymphocytes, she was tall and her secondary 
      sexual characteristics were moderately developed, including breast, pubic and 
      axillary hair stages. Cytogenetic and FISH analyses should be considered for 
      patients presenting primary amenorrhoea even if there are no other clinical 
      features suggestive of chromosome abnormality.
FAU - Gersak, K
AU  - Gersak K
AD  - Institute of Medical Genetics, Department of Obstetrics and Gynaecology, 
      University Medical Centre Ljubljana, Slovenia. ksenija.gersak@mf.uni-lj.si
FAU - Writzl, K
AU  - Writzl K
FAU - Veble, A
AU  - Veble A
FAU - Liehr, T
AU  - Liehr T
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Switzerland
TA  - Genet Couns
JT  - Genetic counseling (Geneva, Switzerland)
JID - 9015261
SB  - IM
MH  - Adolescent
MH  - Amenorrhea/diagnosis/*genetics
MH  - Chromosome Banding
MH  - Chromosome Deletion
MH  - Chromosomes, Human, X/*genetics
MH  - Female
MH  - Gene Duplication
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Monosomy/diagnosis/*genetics
MH  - *Mosaicism
MH  - *Sex Chromosome Aberrations
EDAT- 2010/10/23 06:00
MHDA- 2010/12/14 06:00
CRDT- 2010/10/23 06:00
PHST- 2010/10/23 06:00 [entrez]
PHST- 2010/10/23 06:00 [pubmed]
PHST- 2010/12/14 06:00 [medline]
PST - ppublish
SO  - Genet Couns. 2010;21(3):335-42.