13q Deletion in a Girl Contributing to Antenatal Stroke, Insulin Resistance and Lymphedema Praecox: Expanding the Clinical Spectrum

Abstract

The phenotypic description of 13q deletion syndrome is dependent on the location and size of the deleted segment. The syndrome is divided into three groups based on the location of the deletion relative to chromosomal band 13q32. Groups 1 (proximal to q32) and 2 (including q32) have shown distinctive phenotypes including mental retardation and growth deficiency, whereas group 3 (q33-34 deletion) is defined by the presence of mental retardation but usually the absence of major malformations. 13q deletion has been associated with factor VII and X deficiencies. We report a 10-year-old girl with cytogenetically detectable 13q33.3-34 deletion (group 3) and antenatally detected factor VII deficiency leading to stroke in utero and consequently hemiplegia at birth. This is the first report of a 13q deletion associated with factor VII deficiency leading to antenatal stroke. Our patient also developed rapidly progressive obesity and lymphedema praecox which have not been previously reported with 13q deletion.

SCAR-6elncRNA locus epigenetically regulatesPROZand modulates coagulation and vascular function

“…Our identified lncRNA locus, scar-6 , is also located within the 13q34 region and its functional study demonstrates its involvement in hemostasis and the maintenance of endothelial barrier function and its loss of function can lead to stroke-like phenotype as observed in the case of 13q34 deletion syndrome. (Ponmani et al , 2015;Huang et al , 2012;Reinstein et al , 2016;Rath et al , 2015;Laurie & Bell, 2013) .…”