Abstract
Background 15q26 deletion is a relatively rare chromosomal disorder described in only few cases. Patients with this aberration display numerous symptoms particularly pre- and postnatal growth restriction, microcephaly, intellectual disability, dysmorphic gestalt, and various congenital malformations. Case presentation We report on a girl, four years old, of consanguineous parents, with a de novo 15q26 deletion. Clinical manifestations included failure to thrive, microcephaly, dysmorphic facies with broad forehead, hypertelorism, narrowed eyelid slits, protruding columella. The patient also showed skeletal abnormalities, especially clinodactyly of the 5th finger, right foot varus equine, and left club foot. Additionally, she had teething delay and divergent strabismus. Further clinical investigations showed right-to-left atrial shunting, and enlarged right heart. Routine cytogenetic analysis revealed a derivative 15 chromosome with an abnormally short long (q) arm. Subsequent array analysis disclosed a terminal 9.15 Mb deletion detected in band 15q26.1q26.3. Five candidate genes causing the phenotype were within the deleted region, i.e. IGF1R, NR2F2, MEF2A, MCTP2, and CHD2. Conclusion 15q26 monosomy should be considered when growth retardation is associated with ear anomaly, clinodactyly and/or abnormal toe, heart defect mainly atrioventricular septal defects (AVSDs) and/or aortic arch anomaly (AAA).