ABSTRACT AIM To identify clinical characteristics that are associated with genetic cerebral
palsy (CP) to aid clinicians in selecting candidates for genetic testing. METHODS The …

Microcephaly presents heterogeneous genetic etiology linked to several
neurodevelopmental disorders (NDD). Copy number variants (CNVs) are a causal …

Macrocephaly frequently occurs in single-gene disorders affecting the PI3K-AKT-MTOR
pathway; however, epigenetic mutations, mosaicism, and copy number variations (CNVs) …

Proper epigenetic regulation processes are crucial in the normal development of the human
brain. An ever-increasing group of neurodevelopmental disorders due to derangements of …

Recently, mutations in the zinc finger MYND-type containing 11 (ZMYND11) gene were
identified in patients with autism spectrum disorders, intellectual disability, aggression, and …

Objective: To examine the risk for clinically significant chromosomal microarray analysis
(CMA) findings in fetal right aortic arch (RAA). Methods: Data from all CMA analyses …

The disconnected (disco)‐interacting protein 2 (DIP2) gene was first identified in D.
melanogaster and contains a DNA methyltransferase‐associated protein 1 (DMAP1) binding …

Background The literature contains exceedingly limited reports on chromosome 10p15. 3
microdeletions. In the present study, two cases of fetuses with pure terminal 10p15. 3 …

Large pericentric inversions in chromosome 10 are rare chromosomal aberrations with only
few cases of familial inheritance. Such chromosomal rearrangements may lead to …

Terminal deletion of chromosome 10p is a rare chromosomal disorder, and two main
phenotypes have been defined, depending on the genomic position of the deletion in 10p13 …