Article
Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region.
American journal of medical genetics. Part A - 1 Feb 2014
So Joyce, Stockley Tracy, Stavropoulos Dimitri J
Abstract excerpt
Jacobsen syndrome (JS) is a disorder of developmental delay, growth retardation, thrombocytopenia, dysmorphic features, and cardiac abnormalities, among other congenital anomalies. JS is caused by contiguous gene deletion in distal chromosome 11q, generally varying in size from 7 to 20 Mb. Periventricular nodular heterotopia (PVNH) is a neuronal migration disorder in which neurons are abnormally located in...
Topics
- Aged
- Brain
- Comparative Genomic Hybridization
- Facies
- Female
- Humans
- Jacobsen Distal 11q Deletion Syndrome
- Limb Deformities, Congenital
- Magnetic Resonance Imaging
- Periventricular Nodular Heterotopia