Unraveling the mysteries of the brain, our latest post delves into the intriguing association between diffuse CNS cortical vein malformations and chromosome 17q microduplication, shedding light on the potential role of the SEC14L1 gene in vascular neurosurgery.
– by James
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Diffuse CNS cortical vein malformations with chromosome 17q microduplication: Possible link to SEC14L1.
Huang et al., J Cerebrovasc Endovasc Neurosurg 2023
DOI: 10.7461/jcen.2023.E2023.07.001
Novel Neuroradiologic Finding in Partial Trisomy 17q Syndrome
A recent report has identified a new neuroradiologic feature associated with partial trisomy of the long arm of chromosome 17 (17q), a condition characterized by facial dysmorphisms, skeletal abnormalities, and developmental delay. The case involves a child with a microduplication at the distal end of 17q, who exhibited diffuse enlarged and tortuous cortical veins with normal antegrade blood flow. This vascular anomaly has not been previously reported in the context of 17q trisomy syndrome.
The importance of this finding lies in its potential to expand the clinical spectrum of the syndrome and provides a new avenue for research into the genetic basis of vascular anomalies. The duplicated chromosomal region contains genes that could be significant for understanding both normal and abnormal blood vessel formation (angiogenesis). This discovery is crucial for guiding future studies aimed at unraveling the genetic underpinnings of angiogenesis and related abnormalities in trisomy 17q.