Double autosomal trisomy with mosaicism 47,XY(+8)/47,XY(+21). Morphological and genetic changes of a rare case

Vol. 59 No. 3, 2018


Maria Claudia Jurca, Marius Bembea, Oana Alexandra Iuhas, Kinga Kozma, Codruta Diana Petchesi, Alexandru Daniel Jurca, Ariana Szilagyi, Diana Luminita Dubau, Cristian Nicolae Sava, Dana Carmen Zaha, Emilia Albinita Cuc

The co-occurrence in the same individual of two numerical chromosomal abnormalities (double aneuploidy) is a very rare condition, especially for autosomes. Clinical presentations are variable depending on the predominating aneuploidy. The authors present a rare case of a male infant with multiple congenital anomalies: craniofacial dysmorphism, short neck, agenesis of the corpus callosum, ventricular septal defect, bilateral broad hallux, large first interdigital space of the toes, plantar furrows, prominent calcaneus and right kidney agenesis. The karyotype identified 82% of mitosis with trisomy 8 (47,XY,+8) and 18% with trisomy 21 (47,XY,+21). The evolution was fatal because of eating difficulties, severe growth retardation and recurrent respiratory infections. He died at the age of five months. We report this case as a very rare double autosomal mosaicism, with a complete clinical and morphological description, as the first documented case in Romania.

Corresponding author: Alexandru Daniel Jurca, Assistant Professor, MD, PhD; e-mail:

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