Balkan Journal of Medical Genetics

A NOVEL DE NOVO PARACENTRIC INVERSION [inv(20)(q13.1q13.3)] ACCOMPANIED BY AN 11q14.3-q21 MICRODELETION IN A PEDIATRIC PATIENT WITH AN INTELLECTUAL DISABILITY
Zachaki S, Kouvidi E, Mitrakos A, Lazaros L, Pantou A, Mavrou A, Tzetis M, Manola KN
*Corresponding Author: Dr. Sophia Zachaki, Genesis Genoma Lab, Kifisias Avenue 302, Chalandri, 15232, Athens, Greece. Tel.: +30-210-6803130. Fax: +30-210-6894778. E-mail: szachaki@genlab.gr
page: 63

CASE REPORT

The patient is a 14-year-old boy with intellectual disability who was diagnosed prenatally with a paracentric inversion of the long arm of chromosome 20 (20q). Chorionic villus sampling was performed during the 12th week of gestation due to advanced maternal age (35 years old). The karyotype of the fetus was described as 46,XY,inv(20) (q13.1q13.3). Parental karyotypic analysis was not performed at that time. At birth, his weight was 2900 g and he had an apparently normal phenotype. At 9 months of age, the parents noticed hypotonia, head support delay and inability to situp by the age of 9 months. At approximately 17 months of age, he presented with developmental delay, dysmorphic features, psychomotor retardation and Duane syndrome anomalies. Brain magnetic resonance imaging (MRI) revealed cerebellar hypoplasia. He began occupational therapy and speech therapy at 4 years of age. Presently, he does not have complete control and coordination of his body, especially for delicate movements. He has normal physical and sexual development, but he has problems in perception, speech expression and in self-care, although he shows gradual improvement. The patient does not show evidence of autism, stereotypy and automatic repetition of vocalizations such as echolalia. He is a happy and sensitive child who often cries but easily becomes happy. He attends a special school, is social, cooperative, seeks friendships and likes playing with other children.

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