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
Author    Correspondence author
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
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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)


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.

Double aneuploidy; Down syndrome; Klinfelter syndrome; Gujarat; India

Occurrence of double aneuploidy in live born is comparatively rare phenomenon inhuman 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).

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).
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.
1 Case history
A 12-month old male boy was referred to our laboratory for chromosome analysisbecause 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.
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.

Figure 1 Karyotype showing 3 copies of chromosome 21, 2 copies of X and 1 copy of Y indicative of double aneuploidy

We report a case of double aneuploidy consisting of trisomy 21 and XXY. Thepatient 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 hasbeen 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.
It is interesting to note here that most of published cases of 48,XXY, +21 have indicated increase in maternal age but in our study we found that age of the mother was 27 years.
Therefore, if maternal age is likely cause of non-disjunction of chromosome-21 then younger mother is likely to delivered extra chromosome. Our results are in agreement with the recent study carried out by Shu et al (2013). They have reported double aneuploidy of 48,XXY, +21 in an infant born to 21 year old mother and 23 year old father.
4 Conclusion
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.
Authors wish to thank Mr. Ganesh Jori for his help in microscopy and Ms. Avani Kathiriya for assistance.
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.
Cyril C., Jagatheesan C.N., Chandralekha T., Gopinath P.M, and Marimuthu K.M., 2005, Down syndrome child with 48,XXY, +21 karyotype, Ind. J. Humn. Genet, 11: 47-48
Eid S., Shawabkeh M.M., Hawamdeh A.A., Kamal N.R., 2009, Double trisomy, 48,XXY, +21 in a child with phenotypic features of Down syndrome, Lab. Med., 40: 215-218
Ford C.E., Jones K.W., Miller O.J, Mittwoch U., Penrose L.S., Rider M., et al., 1959, The chromosome in a patient showing both mongolism and Klinfelter syndrome, Lancet, 1: 709-710
International System for Human Cytogenetic Nomenclature (ISCN), S. Karger, Publ. Inc., 2009
Karaman A., and Kabolar E., 2008, Double aneuploidy in a Turkish child: Down-Klinfelter, Syndrome, Cong. Anomalies, 48: 45-47
Kovaleva N.V., and Mutton D.E., 2005, Epidemiology of double aneuploidies involving chromosome 21 and sex chromosomes, Am. J. Med. Genet., 134: 24-32
Mikkelsen M., Fisher G., and Sten J. et al., 1976, Incidence study of DS in Copenhagen, 1960-1971 with chromosome investigation, Ann. Humn. Genet., 40: 177-182

Shu X., Zou C., and Shen Z., 2013, Double Aneuploidy 48,XXY, +21 associated with a congenital heart defects in a neonatal, Balkon J. Med. Genet., 16: 89-90

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