Interstitial deletion of the long arm of chromosome 3, del (3) (q25-q27), in association with Dandy Walker malformation: A case report
1 Department of Pediatrics, Children’s hospital of Rabat. Faculty of Medicine and Pharmacy, Mohamed V University, Rabat, Morrocco.
2 Department of Pediatrics, Mohamed V Military Hospital of Rabat. Faculty of Medicine and Pharmacy, Mohamed V University, Rabat, Morrocco.
Case Study
World Journal of Advanced Research and Reviews, 2024, 23(03), 2239–2244
Publication history:
Received on 07 August 2024; revised on 18 September 2024; accepted on 20 September 2024
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.
Keywords:
Interstitial Deletion; 3q25.27 region; Karyotype; Dysmorphic Features; Dandy Walker Malformation.
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