American Journal of Medical Sciences and Medicine
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American Journal of Medical Sciences and Medicine. 2014, 2(6), 131-133
DOI: 10.12691/ajmsm-2-6-4
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Mosaic Double Aneuploidy with Edwards-Klinefelter Syndromes (48,XXY, +18/46XY)

Salil Vaniawala1 and Pankaj Gadhia1,

1Molecular Cytogenetic Unit, S.N. Gene Laboratory and Research Centre, President Plaza-A, Near RTO circle, Surat, India

Pub. Date: November 27, 2014

Cite this paper:
Salil Vaniawala and Pankaj Gadhia. Mosaic Double Aneuploidy with Edwards-Klinefelter Syndromes (48,XXY, +18/46XY). American Journal of Medical Sciences and Medicine. 2014; 2(6):131-133. doi: 10.12691/ajmsm-2-6-4


Edward syndrome is rare in live births in comparison to most common Down and Patau syndromes. The estimated incidences are one in 6000 live births and interestingly 70 to 80% those affected are females. The occurrence of double aneuploidy involving XXY + 18 is very rare in live born however, most of cases are available with spontaneous abortions. Here, we report a 07 day a male infant with typical features of Edward syndrome such as microcephaly and low set of ears having mosaic double aneuploidy with Klinfelter syndrome.

double aneuploidy mosaic Edward syndrome Klinfelter syndrome

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