Author/Editor     Geršak, K; Writzl, K; Veble, A; Liehr, T
Title     Primary amenorrhoea in a patient with mosaicism for monosomy X and a derivative X-chromosome
Type     članek
Source     Genetic counseling
Vol. and No.     Letnik 21, št. 3
Publication year     2010
Volume     str. 335-42
Language     eng
Abstract     Primary amenorrhoea in a patient with mosaicism for monosomy X and a derivative X-chromosome: 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 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.
Descriptors     AMENORRHEA
MOSAICISM
MONOSOMY
X CHROMOSOME
SEX CHROMOSOME ABNORMALITIES
ADULT
IN SITU HYBRIDIZATION, FLUORESCENCE
KARYOTYPING
CYTOGENETICS