Miller-Dieker syndrome and monosomy 17p13:a new case

1 September 1988

journal article
case report
Published by Springer Nature in Human Genetics

Vol. 80 (1) , 103-104
https://doi.org/10.1007/bf00451469

Abstract

A 12-year-old boy is described with multiple anomalies and a de novo terminal deletion of 17p13. Based on clinical examination, the Miller-Dieker syndrome was diagnosed.

Keywords

INTERNAL MEDICINE
CLINICAL EXAMINATION
METABOLIC DISEASE
TERMINAL DELETION
MULTIPLE ANOMALY

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