Clinical Importance of aCGH in Genetic Counselling of Children with Psychomotor Retardation.

ABSTRACT:

Introduction

The X and Y chromosomes are responsible for the determination and differentiation of the gonads, and their numerical and structural abnormalities may cause the abnormal development of secondary sex characteristics. The presence of abnormalities concerning X chromosome can also contribute to many genetically heterogeneous diseases associated with cognitive impairment and intellectual disability.

Purpose

This study shows the effect of aberrations of the maternal X chromosome on the abnormal development of the child.

Patients and methods

Ten women aged 26 to 40 years were consulted in genetic counselling clinic and subsequently subjected to cytogenetic and molecular tests due to abnormal psychomotor development of their children, in whom structural aberratio

SUBMITTER: Pasinska M 

PROVIDER: S-EPMC9116409 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature