Journal
CONGENITAL ANOMALIES
Volume 55, Issue 2, Pages 107-111Publisher
WILEY
DOI: 10.1111/cga.12080
Keywords
2q23q24; 2q deletion; array-comparative genomic hybridization; behavioral disorders
Categories
Ask authors/readers for more resources
We report a case of a 13-year-old girl with a 5.4Mb de novo deletion, encompassing bands 2q23.3q24.1, identified by array-comparative genomic hybridization. She presented with minor facial and digital anomalies, mild developmental delay during infancy, and behavioral disorders. Few of the reported cases overlap this deletion and all only partially. We tried to compare the clinical features of the patient with the other cases, even though not all of them were molecularly characterized in detail. Considering the neuropsychiatric involvement of the proband and the clinical descriptions of other similar cases, we attempted to identify the genes more probably involved in neurological development and function in the deleted region, particularly GALNT13, KCNJ3 and NR4A2, which are expressed in neuronal cells.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available