A 30-year-old man presented with 5 years of infertility. Cytogenetic analysis revealed a chromosomal translocation between chromosomes 1 and 21 in the male [46, XY t (1; 21) (q32; q22)], which was likely the cause of his infertility. The female partner showed a normal karyotype. Chromosomal abnormalities are a known cause of male infertility and genetic testing is recommended for infertile men prior to assisted reproduction techniques to identify abnormalities. The couple was counseled on their options which included assisted reproduction followed by preimplantation genetic diagnosis.

1. CHROMOSOMAL ABNORMALITIES IN A MALE PARTNER WHO WAS A
CANDIDATE FOR ASSISTED REPRODUCTIVE TECHNIQUES

2. Case Report
CASE REPORT
A 30-year-old man visited our outpatient clinic
complaining of infertility of 5 years’ duration. There is
family history of similarly affected elder sister with
miscarriages for past 10 years. It has been refereed for
postnatal studies for cytogenetics analysis. No history of
consanguinity was noted. The patient was married for five
years and did not conceive so far. There were no relevant
findings regarding his past history and habits [1].
Physical examination revealed a normal male with a
height of 150 cm and a weight of 110 kg. Both testicular
volumes were 14 mL. Measurement of serum hormone
levels demonstrated normal values for LH (4.2 mIU/mL)
and testosterone (6.8 ng/mL) with elevated level of follicle
stimulating hormone (FSH) (21.3 mIU/mL). Seminal
analyses revealed severe oligozoospermia with a sperm
concentration of 0.7 × 106/mL (4.9 × 106/ejaculate), 24%
motility, and 5% normal morphology, he had undergone
vericocele surgery.
The family was keen to have a child, so they decided
for an assisted reproduction. The gynecologist referred the
couple for cytogenetics analysis to rule out cytogenetics
abnormalities.
Cytogenetic analysis of the patient was performed at
Apollo Hospitals, Hyderabad. Blood sample from the
couple was drawn in a heparinized vacutainer for
cytogenetic analysis. The Lymphocyte cultures were set
up in duplicates [2]. Giemsa banding (GTG banding) was
performed [3]. At least 30 metaphases were scored for
each patient. Three cells were karyotyped according to
International System for Human Cytogenetic Nomen-
clature (ISCN) criteria [4]. Usually the total chromosome
count was determined in 30 cells, but if mosaicism
was suspected then 50 or more cell counts were
undertaken [5].
RESULTS
The Cytogenetic analysis of the wife’s sample showed
a normal female karyotype in all the thirty metaphases
screened (46, XY) (Fig. 1) and the husband sample
showed a reciprocal a translocation between the long arm
(q32) of chromosome number 1 and long arm (q22) of 21
[46, XY t (1; 21) (q32; q22)] in all the thirty metaphases
screened (Fig. 2).
DISCUSSION
Infertility affects an estimated 10-15% of couples, and
male factor infertility represents ~50% of cases [6]. The
fact that chromosomal abnormalities are more prevalent
in infertile men compared to fertile men is well
211 Apollo Medicine, Vol. 7, No. 3, September 2010
CHROMOSOMALABNORMALITIES IN AMALE PARTNER WHO WAS ACANDIDATE FOR
ASSISTED REPRODUCTIVE TECHNIQUES
K Iravathy Goud*, S Dayakar, S J Babu and K Vijaya Lakshmi
Department of Molecular Biology and Cytogenetics Laboratory,Apollo Health City, Jubilee Hills, Hyderabad 500 033, India.
Correspondence to: Dr K Iravathy Goud, Molecular Biology and Cytogenetics Laboratory, Apollo Hospitals,
Jubilee Hills, Hyderabad 500 033, India.
E-mail: ira156@yahoo.com
Background: The present case study offers chromosomal abnormalities in a patient attending assisted
reproduction programs. Materials and Methods: Cytogenetic analysis was performed according to standard
methods on cultured cells obtained from the patient with low sperm quality in respect of morphology and
motility. The patients were interviewed about their histories and their reproductive problems, family
background, and possible consanguinity. Results: Chromosomal abnormality was observed in autosomal
chromosomes 1 and 22. The female karyotype showed 46, XX and the male karyotype showed
t(1;21)(1q32;q22). Conclusion: We observe a chromosomal abnormality in a male with low sperm quality.
Chromosomal abnormalities could be one of the causes of male infertility. Consequently, Genetic testing and
counseling is indicated for infertile men with abnormal semen parameters with either abnormal karyotype or
normal karyotype before applying assisted reproductive techniques.
Keywords: Chromosomal abnormalities, infertility, assisted reproductive techniques.

3. Apollo Medicine, Vol. 7, No. 3, September 2010 212
Case Report
established. Several studies reported the prevalence of
chromosomal abnormalities in infertile men, from 2% up
to 16.6 % with sample range from 72 up to 2600 cases [7-
13]. This study showed structural chromosomal
abnormalities in an infertile man. This could be the reason
for misconception in this couple.
The prevalence of chromosomal aberrations in
azoospermic, oligozoospermic males with low sperm
quality has been reported to be 12.0%, 1.2% and 2%
respectively [13]. Of the chromosomal abnormalities, sex
chromosome aneuploidy was the most common (9%).
Klinefelter syndrome was the most frequent sex
chromosome anomaly in males with azoospermia [3-7]. In
oligozoospermic males the 47, XXY karyotype was not as
frequent and constituted only 4.4% of all abnormalities.
Structural aberrations in azoospermic and
oligozoospermic males were approximately similar. In
infertile males with severe spermatogenesis impairment,
chromosomal aneuploidy (especially sex chromosome)
seems to be more common than other abnormalities as
compared to males with low sperm quality [10-12]. In
cases with low sperm quality, the frequency of structural
chromosomal aberrations was reported higher than other
abnormalities [11,12]. This shows that structural
aberrations may possibly be involved in abnormal
morphology and motility of sperm. Consequently, high
resolution chromosomal analysis in group with low sperm
quality is crucial to detect complicated rearrangement. As
seen in our study, chromosomal aberrations are more
frequent in males with low sperm quality was seen [13]. In
the present study the male patient showed 46, XY, t(1; 21)
(q21q22.3) which could be responsible for the infertility.
Hence, the couple was counseled accordingly and was
given the option of assisted reproduction followed by
preimplantation genetic diagnosis (PGD).
CONCLUSION
In conclusion, infertile males with abnormal semen
parameters and normal/abnormal karyotype form the
majority of cases as complicated group with unexplained
infertility [13]. Therefore, genetic testing and counseling
is indicated for infertile men with abnormal semen
parameters with either abnormal karyotype or normal
karyotype before applying assisted reproductive
techniques. Hence, it is recommended that cytogenetic
analysis should be included into the list of routine
investigations that are included in the infertility cases.
ACKNOWLEDGEMENT
The authors acknowledge the patient for accepting to
give the sample and sharing the clinical information and
the management ofApollo Hospitals for their support.
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4. Case Report
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