A severe prenatal presentation of Cat Eye Syndrome

Clin Dysmorphol. 2013 Oct;22(4):175-177. doi: 10.1097/MCD.0000000000000011.

Authors

Guillaume Jedraszak¹, Aline Receveur, Joris Andrieux, Philippe Naepels, Michèle Mathieu-Dramard, Dominique Bremond-Gignac, Henri Sevestre, Henri Copin, Jacques Rochette

Affiliation

¹ Department of Genetics , University Hospital , Research Unit 4666, University of Picardy Departments of Cytogenetics Prenatal Diagnosis Ophthalmology Histopathology and Cytology, University Hospital, Amiens and Institute of Medical Genetics, University Hospital, Lille, France.

PMID: 23982124
DOI: 10.1097/MCD.0000000000000011

No abstract available

MeSH terms

Aneuploidy
Chromosome Disorders / diagnosis
Chromosome Disorders / genetics*
Chromosome Disorders / physiopathology*
Chromosome Duplication / genetics
Chromosomes, Human, Pair 22 / genetics
Eye Abnormalities
Female
Humans
Pregnancy
Prenatal Diagnosis*

Supplementary concepts

Schmid-Fraccaro syndrome