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Abstract

July - September 2022 | Vol. 15 | Issue 3 | 03-07
A Clinical Report and Further Delineation of the Proximal 8p Deletion - Associated Phenotype
Neha Agrawal, Shubha R Phadke
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow, India
Address for Correspondence Email: shubharaophadke@gmail.com
 
Abstract
Chromosomal abnormalities are the most common cause of unexplained developmental delay (DD), autism, intellectual disability (ID) and multiple congenital anomalies (MCA). Proximal interstitial deletion of 8p is very rare, and only a few reports have been published till date.Here, we report a 3-years-6 months-old-boy with a de novo 13 Mb interstitial deletion of chromosome 8p21.1-8p22, to expand the knowledge of the phenotypic effects of this rare interstitial deletion. It was in a mosaic form and mosaicism was detected on traditional karyotyping.
 
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