8q24 deletion and clinical significance

Sometimes a chromosomal microarray analysis (CMA) shows relatively large deletions or duplications of chromosomal material, but the clinical significance of these abnormalities remains unclear. This situation is especially important upon prenatal diagnosis when a fetus does not have any visible defects, or when only minor abnormalities are found. The authors collected 7 cases of interstitial deletions involving the segment 8q24 (from 8q23.13 to 8q24.3) from their practice and added 8 cases from Decipher and ClinVar (collections of unpublished observations). In 6 cases from their own practice, deletion 8q24 was the only abnormality, and in one case it was associated with a more proximal non-continuous deletion of 8q. Four cases were revealed as a prenatal diagnosis: one family decided to continue the pregnancy (which resulted in a healthy boy), in three other families, the pregnancies were terminated (although two fetuses had only minor ultrasound abnormalities and one had none). Among three postnatal cases, two (with deletions 14.5-16 Mb) revealed developmental delay and birth defects, but one 2.6 Mb deletion was found in a healthy woman. The cases collected from Decipher and ClinVar showed mostly developmental delay and autistic behavior, but these conditions are main indicators for performing cytogenetic examination using CMA. The segment 8q24.13-8q24.3 contains relatively few genes, but the clinical significance of deletions in this area remains unclear.

Maya I. et al. “The phenotype of 15 cases with rare 8q24.13-q24.3 deletions – a new syndrome or still an enigma?” “Amer. J. Med. Genet.” 2021, v. 185 (x), xx-xx.

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