THE LARGEST PARACENTRIC INVERSION, THE HIGHEST
RATE OF RECOMBINANT SPERMATOZOA. CASE REPORT:
46,XY, inv(2)(q21.2q37.3) AND LITERATURE REVIEW Yapan CC, Beyazyurek C, Ekmekci CG, Kahraman S *Corresponding Author: Cigdem Cinar Yapan, MSc., Reproductive Genetics Laboratory, Istanbul Memorial Hospital,
Piyalepasa Street, 34385 Sisli, Istanbul, Turkey. Tel.: +90-212-314-6666. Fax: +90-212-314-6657.
E-mail: cigdemcinar78@gmail.com page: 55
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MATERIALS AND METHODS
Patients. A 43-year-old man and his 42-year-old
wife were referred to the Istanbul Memorial Hospital
In Vitro Fertilization (IVF) and Reproductive Genetics
Center, Istanbul, Turkey, with primary infertility and a
history of repeated implantation failures in their nine
IVF attempts. Cytogenetic analysis reports indicated
46,XY,inv(2) (q21.2q37.3) (Figure 2) and 46,XX,
for the man and woman, respectively. A sperm-FISH
evaluation was proposed to determine the meiotic segregation
profiles of the PAI.
Sperm Fluorescent In Situ Hybridization
Analysis. Sperm samples were collected in a sterile
container after 3 days of sexual abstinence. All
procedures including fixation, pretreatment, probe
application, hybridization, and washing steps were
carried out as described previously [17]. Hybridization
was performed with two specific telomeric
and centromeric probe mixtures. The first mixture
included Telomeric (Tel) 2p (Spectrum Green), Tel
2q (Spectrum Orange) and Centromeric (Cen) 18
(Spectrum Aqua) as a control probe. The second
mixture included Tel 2p (Spectrum Green), Cen 2
(Spectrum Orange) and Cen 18 (Spectrum Aqua)
(Abbott Molecular, Abbott Park, North Chicago,
IL, USA). In order to evaluate aneuploidies of other
chromosomes or any possible ICE, probes specific
for chromosomes 13, 15, 17, 18, 21, X and Y were
also included in the study. The 13, 18, 21, X and Y
probes were in our routine aneuploidy panel. Probes
specific for chromosomes 15 and 17 were selected
randomly in order to increase the number of chromosomes.
Analysis criteria that have been described
elsewhere [18] was followed.
In Vitro Fertilization Study. The couple underwent
IVF treatment at the IVF and Reproductive
Genetics Center at the Memorial Hospital, Istanbul, Turkey. In vitro fertilization, embryological culture
conditions have been described previously [19].
Written informed consent was obtained from the
couple before they underwent IVF.
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