Interstitial deletion of the long arm of chromosome 3, del (3) (q25-q27), in association with Dandy Walker malformation: A case report
Year: 2024
Type: article
Abstract: Interstitial deletions of the long arm of chromosome 3 are rare, and detailed genotype-phenotype correlations are not well established. The Dandy-Walker malformation (DWM) is one of the most common congenital cerebellar defects and can be associated with multiple congenital anomalies and chromosomal syndromes. We report an interstitial deletion of 3q: 46, XY, del (3) (q25; q27) in a Three-month-old boy with dysmorphic features, developmental delay, and a Dandy Walker malformation observed in MRI.
Authors: Hajar Baidi, Abdelilah Radi, Azeddine Laaraj, Abdelhakim Ourrai, Amale Hassani, Rachid Abilkassem
Institution: Mohammed V University
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W6930780597
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