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

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 ar

SUBMITTER: Natiq A 

PROVIDER: S-EPMC4068972 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature