Chromosomal copy number variants (CNVs) are an important cause of congenital
malformations and mental retardation. This study reported a large Chinese pedigree (4 …

Chromosomal abnormalities, such as unbalanced translocations and copy number variants
(CNVs), are found in autism spectrum disorders (ASDs)[Sanders et al.(2011) Neuron 70 …

A male child, born from consanguineous parents and having intellectual disability, short
stature, dysmorphic facial features, synpolydactyly, and cardiac malformations is reported …

Partial trisomy 4p and partial monosomy I Sip case report and a literature review: We report
on a term first born dichorionic-diamniotic twin with deletion of the distal long arm of …

Background Carriers of balanced reciprocal chromosomal translocations are at known
reproductive risk for offspring with unbalanced genotypes and resultantly abnormal …

It has been proposed that copy number variations (CNVs) are associated with increased risk
of autism spectrum disorder (ASD) and, in conjunction with other genetic changes …

Abstract Introduction: Intellectual disability affects 2%–3% of the general population, with a
chromosomal abnormality being found in 4%–28% of these patients and a cryptic …

Balanced chromosome translocations carriers mostly do not have recognizable phenotypic
expression but may have more risk of recurrent spontaneous abortions &/or children with …

RESUMO A deficiência intelectual (DI) ou transtorno do desenvolvimento intelectual,
isolada ou associada a anomalias congênitas, corresponde a uma das categorias mais …

Aim: The most important risk factors for a Stanford type A acute aortic dissection (AAD)
include arterial hypertension and connective tissue disorders, while numerous studies have …