3q27.1 deletion

The reported cases of 3q26.33q22.7 deletions share a distinct phenotype, which includes intrauterine growth restriction (IUGR), intellectual disability (ID), microcephaly, feeding difficulties, hypotonia, post-natal short stature, facial dysmorphisms, thrombocytopenia and dental anomalies. Previously, a 1.2Mb smallest region of overlap (SRO) was identified including 46 protein-coding genes. The authors add 7... Read More