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Chen CP, Chern SR,Chen CY, Wu PC, Chen LF et al., Double aneuploidy with Edward-Klinefelter syndrome 48,XXY, +18) of maternal origin:prenatal diagnosis and molecular cytogenetic characterization in a fetus with arthrogryposis of the left wrist and aplasia of left thumb. Taiwan J. Obst. And Gynecol. 2011; 50: 479-484.

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Article

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

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, Vol. 2 No. 6, 131-133
DOI: 10.12691/ajmsm-2-6-4
Copyright © 2014 Science and Education Publishing

Cite this paper:
Salil Vaniawala, 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.

Correspondence to: Pankaj  Gadhia, Molecular Cytogenetic Unit, S.N. Gene Laboratory and Research Centre, President Plaza-A, Near RTO circle, Surat, India. Email: pankajkgadhia@gmail.com

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.

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