Phelan-McDermid syndrome (PMS) is caused by haploinsufficiency of the SHANK3 gene on
chromosome 22q13. 33 and is characterized by intellectual disability, hypotonia, severe …

Human ring chromosomes are often unstable during mitosis, and daughter cells can be
partially or completely aneuploid. We studied the mitotic stability of four ring chromosomes …

Autism spectrum disorder (ASD) is a large group of neurodevelopmental conditions that
share common characteristics such as social and language impairment and repetitive and …

Background Ring chromosome instability may influence a patient's phenotype and
challenge its interpretation. Results Here, we report a 4-year-old girl with a compound …

Atypical teratoid rhabdoid tumors of the central nervous system are rare, highly malignant,
embryonal tumors most often occurring in children under age 3 years. Most are due to a …

An 8-year-old girl with mild dysmorphic features presented for evaluation of developmental
delay and staring spells. She had been born late preterm and spent 1 month in the neonatal …

Abstract Background Phelan-McDermid syndrome (PMS) is a rare genetic disorder caused
by SHANK3 pathogenic variants or chromosomal rearrangements affecting the chromosome …

Abstract Copy-number variants (CNVs), in particular rare, small and large ones (< 1%
frequency) and those encompassing brain-related genes, have been shown to be …

Ring chromosome (RC) is a poorly understood genetic anomaly seen in myeloid
neoplasms. This study aims to shed light on the clinical significance of this finding. We …

Introduction The advent of chromosome microarray analysis (CMA) for evaluation of patients
with multiple congenital anomalies has made it possible to define chromosomal imbalances …