A case of monosomy 21.

198811 citationsJournal Article

Authors

B Garzicić · Institut za Zdravstvenu Zastitu Majke i Deteta

Abstract

A new case of monosomy 21 was observed in a newborn male. Characteristic clinical features include: an antimongoloid eye slants, large and low set ears, flat nose bridge, hypoplastic nipples, cardiac anomalies, muscular hypotonia, retarded psychomotor development. The karyotypes of the parents were normal.

Topics & Keywords

Genomic variations and chromosomal abnormalities Prenatal Screening and Diagnostics

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: PubMed

Volume 31, Issue 4, pp. 247-9

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