History and molecular characteristics of a patient with terminal deletion of 14q. Is this another syndrome with a striking phenotype?

Clin Dysmorphol. 2012 Apr;21(2):97-100. doi: 10.1097/MCD.0b013e32834e92b8.

Authors

Aleksandra Jezela-Stanek¹, Marzena Kucharczyk, Anna Gutkowska, Magdalena Pelc, Elżbieta Ciara, Krystyna H Chrzanowska, Małgorzata Krajewska-Walasek

Affiliation

¹ Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.

PMID: 22391620
DOI: 10.1097/MCD.0b013e32834e92b8

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Chromosome Deletion*
Chromosome Disorders / diagnosis*
Chromosome Disorders / genetics
Chromosomes, Human, Pair 14*
Comparative Genomic Hybridization
Female
Genotyping Techniques
Humans
Infant
Karyotyping
Microsatellite Repeats
Phenotype*
Syndrome