The clinical and molecular features of three Turkish patients with a rare genetic disorder: 2q37 deletion syndrome

Özet

Chromosome 2q37 deletion syndrome is a rare chromosomal disorder whichis characterized by mild-moderate intellectual disability, brachymetaphalangyof digits 3-5, short stature, obesity, hypotonia and characteristic facialappearance. Here, we report three Turkish patients who have 2q37 deletion inaCGH analysis with various sizes (9.08 Mb, 2.3 Mb and 2.021 Mb, respectively).HDAC4 gene, which is a class II histone deacetylase, has been considered tobe associated with most of the features including brachymetaphalangy andintellectual disability. The deletion region included HDAC4 gene in the twopatients. However, all of the patients had intellectual disability, especially witha cheerful mood. Some autistic features were detected in one of our patients.Although two patients had some skeletal findings, the deletion region didnot contain HDAC4 gene in one of the patients. We suggest that our findingssupport understanding and updating knowledge on the phenotype-genotypecorrelation in patients with 2q37 deletion syndrome.