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Mosaic Double Aneuploidy with Edwards-Klinefelter Syndromes (48,XXY, +18/46XY)

Salil Vaniawala1, Pankaj Gadhia1,

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

American Journal of Medical Sciences and Medicine. 2014, 2(6), 131-133. DOI: 10.12691/ajmsm-2-6-4
Published online: August 25, 2017

Abstract

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.

Keywords:

double aneuploidy, mosaic, Edward syndrome, Klinfelter syndrome
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