International Journal of Molecular Medical Science 2014, Vol. 4, No. 4, 1-3
http://ijmms.biopublisher.ca
Research Report
Open Access
A Rare Double Aneuploidy with 48,XXY, +21 Karyotype in Down Syndrome
from Gujarat, India
Pankaj K. Gadhia , Salil N. Vaniawala
Molecular Cytogenetic Unit, S. N. Gene Lab. and Research Centre, President Plaza-A, Near RTO circle, Surat, India
Corresponding author email: [email protected]
International Journal of Molecular Medical Science, 2014, Vol.4, No.4 doi: 10.5376/ijmms.2014.04.0004
Received: 31 Oct., 2014
Accepted: 18 Nov., 2014
Published: 23 Dec., 2014
© 2014 Gadhia and Vaniawala, This is an open access article published under the terms of the Creative Commons Attribution License, which permits
unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Preferred citation for this article:
Gadhia and Vaniawala, 2014, A Rare Double Aneuploidy with 48,XXY, +21 Karyotype in Down Syndrome from Gujarat, India, International Journal of
Molecular Medical Science, Vol.4, No.4, 1-3 (doi: 10.5376/ijmms.2014.04.0004)
Abstract The occurrence of double aneuploidy in single individual is relatively rare phenomenon. A 12 – month old child has an
extra X chromosome in addition to trisomy 21. The phenotypic characteristics of child were similar to Down syndrome. Cytogenetic
finding revealed 48,XXY, +21 karyotype. Results have been discussed in light of published case reports on double aneuploidies of
XXY, +21.
Keywords Double aneuploidy; Down syndrome; Klinfelter syndrome; Gujarat; India
Introduction
1 Case history
Occurrence of double aneuploidy in live born is
comparatively rare phenomenon in human population as
compared to higher percentage in spontaneous abortions
(Cyril et al., 2005; Karaman and Kabolar, 2008). The
patients with double aneuploidy may have
manifestations of both chromosomal abnormalities.
Further studies on the incidence of an XXY chromosome
pattern among patients with Down syndrome have
revealed that double aneuploidy might be more frequent
than multiplying the frequencies of individual
aneuploidies (Mikkelesen et al., 1976; Ford et al., 1959).
A 12-month old male boy was referred to our
laboratory for chromosome analysis because
clinical features were suggestive of Down syndrome.
The age of the mother was 27 and father was 30
years at the time of child birth. The physical
examinations of patient presents typical features of
Down syndrome with flat profile, mongoloid slant
of eyes, flat nasal bridges, low set and malformed
ears, short neck, protruding tongue and open mouth.
The clinical features of Klinfelter syndrome were
not prominent except very small testes and absence
of hair on the chest.
The patients with double aneuploidy may have the
manifestations of both chromosomal abnormalities.
Double aneuploidy leading to trisomy and/or monosomy
of 2 different chromosomes arise because of 2 meiotic
non-disjunctional events (Eid et al., 2009).
2 Method
Blood sample was collected from patient after
obtaining informed consent. Chromosome preparations
obtained from PHA-stimulated peripheral blood
cultures, were subjected to GTG banding. Total of 50
metaphases were scored and karyotype was prepared
according to (ISCN, 2009) The automatic scanning
system (Axiomerger Z2–Carl-Zeiss) and karyotyping
software (IKAROS, Germany) were used to make
karyotypes. The karyotype of child was found to be
48,XXY, +21 (Figure 1) with no evidence of
mosaicism. Parental karyotype was not studied as
blood was not available.
Kovaleva and Mutton (2005) have identified 52 live
born cases along 13 prenatal cases and suggested that
the frequency of all non-mosaic double aneuploidies
except 48,XXY, +21 are lower than expected due to
strong intrauterine selection against such pregnancies.
The clinical features of a 12-month old boy who
exhibited karyotype 48,XXY, +21 have been
described in this paper.
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International Journal of Molecular Medical Science 2014, Vol. 4, No. 4, 1-3
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Figure 1 Karyotype showing 3 copies of chromosome 21, 2 copies of X and 1 copy of Y indicative of double aneuploidy
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International Journal of Molecular Medical Science 2014, Vol. 4, No. 4, 1-3
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3 Discussion
Acknowledgements
Authors wish to thank Mr. Ganesh Jori for his help in
microscopy and Ms. Avani Kathiriya for assistance.
We report a case of double aneuploidy consisting of
trisomy 21 and XXY. The patient showed typical clinical
manifestations of Down syndrome; which is consistent
with other published reports (Karaman and Kabolar,
2008; Eid et al., 2009; Kovaleva and Mutton, (2005).
The real causes of aneuploidies are not well understood,
meiotic non-disjunction has been suggested as most
frequent cause of chromosomal abnormalities. Normally
50% of XXY cases arise from an error in paternal
meiosis – I, and remaining in maternal meiosis I or II. On
the other hand, trisomy-21 can originate in either at the
divisions in both parents.
Author’s contribution
This work was carried out in collaboration between two authors.
SV designed the study, wrote the protocol and participated in
microscopy. PG has carried out literature survey, wrote first
draft and data analysis. Both authors read and approved the
final manuscript.
References
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It is interesting to note here that most of published
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4 Conclusion
http://dx.doi.org/10.1002/ajmg.a.30306
It is concluded from the present study that Down
syndrome-Klinfelter syndrome is a rare condition.
We present a case of 48,XXY, +21 karyotype with
typical features of Down syndrome whose parents
were comparatively young. Hence, double aneuploidy
with Down syndrome features shed light on
phenotype-genotype relationship.
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3