TY - JOUR AU - Al Dhaibani, Muna A. AU - Allingham-Hawkins, Diane AU - El-Hattab, Ayman W. PY - 2017 DA - 2017/10/23 TI - De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report JO - BMC Medical Genetics SP - 118 VL - 18 IS - 1 AB - Studying human genome using chromosomal microarrays has significantly improved the accuracy and yield of diagnosing genomic disorders. Chromosome 7q36 deletions and duplications are rare genomic disorders that have been reported in a limited number of children with developmental delay, growth retardation, and congenital malformation. Altered dosage of SHH and HLXB9, both located in 7q36.3, is believed to play roles in the phenotypes associated with these rearrangements. In this report we describe a child with 7q36.1q36.2 triplication that is proximal to the 7q36.3 region. In addition to the clinical description, we discuss the genes located in the triplicated region. SN - 1471-2350 UR - https://doi.org/10.1186/s12881-017-0482-8 DO - 10.1186/s12881-017-0482-8 ID - Al Dhaibani2017 ER -