A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delay

11Citations
Citations of this article
14Readers
Mendeley users who have this article in their library.

Abstract

Background: We report clinical and molecular cytogenetic characterization of a 2 year-old girl with 19p13.2p13.12 microdeletion and compare her clinical features with those of three other patients reported before. Result: Array comparative genomic hybridization (aCGH) revealed in the present patient a de novo microdeletion of 1.45 Mb within 19p13.2p13.12. The deletion includes seven OMIM genes: MAN2B1, RNASEH2A, KLF1, GCDH, NFIX, CACNA1A and CC2D1A. Discussion. The present case and three other patients with partially overlapping 19p13 microdeletion share the following features: psychomotor and language delay, intellectual disability, seizures, hypotonia, skeletal anomalies and facial dysmorphism. The smallest region of overlapping between all four reported patients is around 300 kb and spans only two genes: NFIX and CACNA1A. Their haploinsufficincy could be the base for the phenotype -genotype correlation. © 2014 Natiq et al.; licensee BioMed Central Ltd.

Cite

CITATION STYLE

APA

Natiq, A., Elalaoui, S. C., Miesch, S., Bonnet, C., Jonveaux, P., Amzazi, S., & Sefiani, A. (2014). A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delay. Molecular Cytogenetics, 7(1). https://doi.org/10.1186/1755-8166-7-40

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Save time finding and organizing research with Mendeley

Sign up for free