Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X) (pter-->q24::q21.32-->qter) and random X inactivation.

Abstract

We report on an 18-month-old girl with multiple congenital anomalies (prominence of the metopic suture, fine hair, club foot, absence of the 12th rib, brachydactyly) and severe mental retardation. The funduscopic examination showed diffuse retinal hypopigmentation. Brain magnetic resonance image (MRI) showed signs of diffuse hypomyelination. On cytogenetic… (More)

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Cite this paper

@article{Carrozzo1997MultipleCA, title={Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X) (pter-->q24::q21.32-->qter) and random X inactivation.}, author={Romeo Carrozzo and Giulia Arrigo and E. Rossi and Barbara Bardoni and Matteo Cammarata and Paolo Gandullia and Richard A. Gatti and Orsetta Zuffardi}, journal={American journal of medical genetics}, year={1997}, volume={72 3}, pages={329-34} }