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

Magdalena Pasińska,1 Ewelina Łazarczyk,1 Anna Repczyńska,1 Agnieszka Sobczyńska-Tomaszewska,2 Janusz Zimowski,3 Agata Runge,1 Olga Haus1 1Department of Clinical Genetics, Faculty of Medicine, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University, Bydgoszcz, Poland; 2Medical Center “Medgen”, Warszawa, Poland; 3Department of Genetics, Institute of Psychiatry and Neurology, Warszawa, PolandCorrespondence: Magdalena Pasińska, Department of Clinical Genetics, Faculty of Medicine, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University, ul. M. Skłodowskiej-Curie 9, Bydgoszcz, 85-094, Poland, Tel/Fax +48 52 585 35 68 ; +48 52 585 36 70, Email magdalena@cm.umk.pl; magdapas@wp.plIntroduction: 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 aberrations of the X chromosome had been detected.Results: Two women were diagnosed with changes in karyotype: 46,X,der(X)t(X;Y)(p22.3;q11.2) in one and 46,X,inv(X)(p21.2q13). Five women were diagnosed with microduplications in the short arm of the X chromosome; dupXp22.31 in one, and in four women dupXp22.33. The remaining three women were diagnosed with duplication in the long arm of the X chromosome; dupXq25 in one and dupXq26.3 in two women.Conclusion: Gene