Duplication 9 p Syndrome; Case Report

Objectives: Duplication 9p is a rare genetic disorder in which extra chromosomal material is present on the short arm of chromosome 9 (9p). Overall, there is considerable consistency phenotypically, particularly facial and digital anomalies, despite differences in duplication size. For this reason, it is known as duplication 9p syndrome. Since duplication 9p syndrome was first described in 1970, over 150 cases of partial or complete duplication of 9p have been reported in the medical literature (Guilherme 2014; Amasdl 2016; Canton 2016). Phenotypic features include short stature, microcephaly/brachycephaly, downward sloping palpebral Fissures, hypertelorism, short broad neck, short philtrum, downward curved corners of the mouth, low ears, anomalies in the fingers and toes are observed. Methods: Case report Results: A two-year-old girl was admitted to our outpatient clinic with the complaint of developmental delay. 2215 gr was born at 38th gestational week. The patient had a history of hospitalization in the neonatal intensive care unit for 11 days due to SGA, feeding difficulties and neonatal jaundice. There was no consanguinity between the parents. In his examination, the head circumference z score was -2.22 sds. Also, frontal bossing, flattened nasal root, low ear, hypertelorism, exotropia observed. Nonspecific gliosis detected in cranial MRI. In the DNA microarray gene analysis is a duplication of approximately 38 mb was detected in the 9p24.3p13.1 region. Conclusion: 9p duplication have a well-recognized phenotype because of their facial appearance. We aimed to draw attention to this rare situation.
Keywords: Duplication, Syndrome,genetic disorder, chromosomal anomaly