Mosaic Double Aneuploidy with Edwards-Klinefelter Syndromes (48,XXY, +18/46XY)
نویسندگان
چکیده
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.
منابع مشابه
[Double aneuploidy: Klinefelter and Edwards syndromes (48,XXY,+18). Case report].
The co-existence of a double chromosomal abnormality in one individual is a rare event, even more the simultaneous presence of Klinefelter (XXY) and Edwards (trisomy 18) syndrome. The aim of this article is to report the case of a newborn with a double aneuploidy, which consists in the coexistence of Edwards and Klinefelter syndrome. The patient's phenotype correlates mainly with Edwards syndro...
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تاریخ انتشار 2014