A specific phenotype associated with trisomy 15 mosaicism.

In this report the authors describe the phenotype of a female newborn with trisomy 15 mosaicism and double aneuploidy (47, XX, +15/47, XXX). Comparison with the two other patients with trisomy 15 mosaicism reported up to now, reveals a distinct phenotype with typical craniofacial dysmorphism, severe hypotonia and general symptoms and signs compatible with a fetal akinesia sequence.

Keywords

Chromosomes, Human, Pair 15, Mosaicism, Skull, Infant, Newborn, Trisomy, Facial Bones, Phenotype, Karyotyping, Humans, Muscle Hypotonia, Female

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