1 results
03/Jun/2020
DOI: 10.31744/einstein_journal/2020RC5335
ABSTRACT Chromosomal abnormalities are responsible for several congenital malformations in the world, some of these are associated to telomeric/subtelomeric deletions. The abnormalities involving the telomere of chromosome 12 are rare, with few reports of deletions involving 12q24.31 region in the literature, and, to our knowledge, only four of them in the 12q24.31-q24.33 region. We report a further case of interstitial deletion of bands 12q24.31-q24.33 associated with autism spectrum disorder. A 2-year-old boy with global developmental delay associated with multiple congenital […]
Keywords: 12q2431 deletion syndrome; Autism spectrum disorder; Chromosome aberrations; Developmental disabilities; Nervous system malformations