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

Salil Vaniawala¹ and Pankaj Gadhia^1,

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

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

This work is licensed under a Creative Commons Attribution 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/

Figures

References:

[1]	Weeraesekara KP, Anjana Sirisena. Coexisting Edward syndrome and Klinefelter syndrome. Sri Lanka J. Child Helth. 2013; 42(3): 170-172.
[2]	Gadhia P, Kathiriya A, Vaniawala S. Prevelance of Down syndrome in Western India: A cytogenetic study. Br. J. Med. Med. Res. 2014; 5(10): 1255-1259.
[3]	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.
[4]	International System for Human Cytogenetics Nomenclature (ISCN). S. Karger Publ. Inc. (2009).
[5]	PariharM, Koshy B, Srivastava M. Mosaic double aneuploidy: Down syndrome and XXY. Ind. J. Humn. Genet. 2013; 19(3): 346-348.
[6]	Cyril C, Chandra N, Jegatheesan T, Chanderalekha K, Ramesh A,Gopinath PM, Marimuthu KM. Down syndrome child with 48,XXY, +21 karyotype. Ind. J. Humn. Genet. 2005; 11(1): 47-48.
[7]	Kovaleva NV, Mutton DE. Epidemiology of double aneuploidies involving Chromosome 21 and the sex chromosome. Am. J. Med. Genet. 2005; 134: 24-32.
[8]	Hou, JW. Double aneuploidy: trisomy 18 and XXY in a boy. Chang Gung. Med. J. 2006; 29: 6-12.
[9]	Karman A, Kabalar, E. Double aneuploidy in Turkish child: Down-Klinfelter syndrome.Congent.Anom.(Kyoto). 2008; 48: 45-47.