American Journal of Medical Sciences and Medicine
ISSN (Print): 2327-6681 ISSN (Online): 2327-6657 Website: http://www.sciepub.com/journal/ajmsm Editor-in-chief: Apply for this position
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American Journal of Medical Sciences and Medicine. 2014, 2(6), 131-133
DOI: 10.12691/ajmsm-2-6-4
Open AccessArticle

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

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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