hrp0095p1-524 | Growth and Syndromes | ESPE2022

A Case with Growth and Developmental Retardation: 12q14 Deletion

ÇEtinkaya Semra , Görkem Erdoğan Nilay , Savaş Erdeve Şenay , Bakir Abdullatif

Introduction: Interstitial deletions on the long arm of the 12th chromosome are rare and often occur de novo. These deletions have been found to be associated with mental retardation, developmental delay, growth retardation and various congenital anomalies in different studies. In studies up to date, it has been determined all interstitial 12q deletions are clustered between five regions on this chromosome (HMGA2, GRIP1, LEMD3, MSRB3, and TMBIM4). Low birth we...

hrp0095p1-122 | Growth and Syndromes | ESPE2022

A Case of Derivative Chromosome 1 Accompanied by Y Chromosome Deletion

Çetinkaya Semra , Görkem Erdoğan Nilay , Esen Senem , Özkaya Dönmez Beyhan , Arasli Yilmaz Aslihan , Elmaoğullari Selin , Okur İclal , Kurnaz Erdal , Savaş Erdeve şenay , Bakir Abdullatif

Introduction: Derivative chromosome is a rearrangement involving two or more chromosomes or the presence of multiple abnormalities in a single chromosome and always contains intact centromere. Segmental anomalies such as inversion or translocation in derivative chromosome may result in partial duplication or deletion during meiosis. Chromosomal translocations usually result in miscarriage and multiple anomalies (common neurodevelopmental defects, growth retard...