Chromosomal abnormalities and autism

Epilepsy and chromosomal abnormalities

BACKGROUND Many chromosomal abnormalities are associated with Central Nervous System (CNS) malformations and other neurological alterations, among which seizures and epilepsy. Some of these show a peculiar epileptic and EEG pattern. We describe some epileptic syndromes frequently reported in chromosomal disorders. METHODS Detailed clinical assessment, electrophysiological studies, survey of t...

Association of Fetal and Parental Chromosomal Abnormalities with Congenital Anomalies

Background & Aims: Chromosome abnormalities are a major cause of miscarriage and neonatal mortality. The present study aimed to determine the association of fetal and parents chromosomal abnormalities with congenital anomalies. Methods: A cross-sectional study was performed in a tertiary referral center (Afzalipour Hospital) over 16 months period (2011-2012). The study groups consisted of 77 fe...

Frequency and the Type of Chromosomal Abnormalities in Patients with Primary Amenorrhea in Northeast of Iran

Anatomical Abnormalities in Autism?

Substantial controversy exists regarding the presence and significance of anatomical abnormalities in autism spectrum disorders (ASD). The release of the Autism Brain Imaging Data Exchange (∼1000 participants, age 6-65 years) offers an unprecedented opportunity to conduct large-scale comparisons of anatomical MRI scans across groups and to resolve many of the outstanding questions. Comprehensiv...

Chromosomal Abnormalities in Reimplantation Development

Direct testing of the outcome of human female meiosis demonstrated that up over a half of oocytes from IVF patients of advanced reproductive age are aneuploid, originating comparably from meiosis I and meiosis II errors, with potential probability of aneuploidy rescue in an almost half of oocytes with sequential first and second meiotic errors. One fifth of abnormalities originating from meiosi...