2009 Vienna - European Society of Human Genetics

Reproductive genetics
and social factors. It also emphasizes the importance of considering
gender role and gender identity during sex reassignment especially in
late diagnosis to avoid the deleterious psychological impact that might
reach suicidal attempts.
P03.202
A rare deletion in X chromosome in a child with sexual reversal
F. Manoochehri, F. Razazian, F. Mortezapour, M. Rahnama, F. Nasiri, M. Zamanian,
F. Mahjoobi;
The Iranian Blood Transfusion Organization Research Center,Tehran,Iran.,
Tehran, Islamic Republic of Iran.
A baby was referred to our laboratory because of ambiguous genitalia.
There was no relevant family history.
Material & Methods: lymphocyte cultures from the patients were set up
in RPMI1640 supplemented with 20% FBS. High resolution chromosome
banding was performed.
Result: The karyotype was determined as: 46,X,del(X)(q26). Sonography
revealed that the baby had a normal uterus and ovaries, but no
testes were observed.
Disucssion: The deletion of this region has not previously been reported
as a cause for the ambiguous genitalia.
P04. Reproductive genetics
P04.01
multiple aneuploidy in spontaneous abortions is associated
with advanced maternal age: data retrieved from analysis of 600
consecutive cases
S. G. Vorsanova 1,2 , I. Y. Iourov 1,2 , A. D. Kolotii 1 , A. K. Beresheva 1 , I. A. Demidova
1 , O. S. Kurinnaya 1 , V. S. Kravets 1 , E. A. Kirillova 3 , I. V. Soloviev 2 , Y. B.
Yurov 1,2 ;
1 Institute of Pediatrics and Children Surgery, Rosmedtechnologii, Moscow, Russian
Federation, 2 National Research Center of Mental Health, RAMS, Moscow,
Russian Federation, 3 Woman’s Medical Center, Moscow, Russian Federation.
Aneuploidy and polyploidy together represent the most common genetic
cause of spontaneous abortions (SA). However, the origin of
aneuploidy in human conceptions remains incompletely understood.
We have hypothesized the existence of either meiotic or mitotic instabilities
produced by environmental factors, or maternal age, may
be associated with germline aneuploidy or post-zygotic aneuploidization
(polyploidization) of fetal tissues. Maternal age has the potential
to be more evident in cases of multiple aneuploidy (MA) or polyploidy
(MP). To test the hypothesis, we have investigated the karyotype in
600 samples of SA by interphase FISH taking into account maternal
exposure to common environmental mutagens and maternal age. Aneuploidy
and polyploidy were detected in 50.1% of cases. Both MA and
MP were found in 9.4% of cases of SA. More precisely, MP was found
in 3.5% of cases, autosomal and autosomal/gonosomal MA - in 3.2%
of cases, and pure gonosonal MA - in 2.7% of cases. A sociogenetic
analysis has not revealed correlations between incidence of MA/MP
and maternal tobacco exposure, alcohol and irradiation. Analysis of
maternal age in three aforementioned groups of MA/MP has shown
that pure gonosonal MA and MP do not exhibit higher prevalence
among mothers with advanced age. On the other hand, autosomal
and autosomal/gonosomal MA has demonstrated a 2-fold-increased
incidence in mothers with advanced age (P