Abstract 22q11. 2 deletion syndrome (22q11. 2DS) is the most common chromosomal
microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic …

This review aimed to update the clinical practice guidelines for managing children and
adolescents with 22q11. 2 deletion syndrome (22q11. 2DS). The 22q11. 2 Society, the …

A12-year-old boy currently is followed by multiple subspecialists for problems caused by the
chromosome 22q11. 2 deletion syndrome (22q11DS)(Figure). He was born via spontaneous …

Alagille syndrome (ALGS), also known as arteriohepatic dysplasia, is a multisystem disorder
due to defects in components of the Notch signalling pathway, most commonly due to …

The intent of this review is to provide the clinician with a summary of what is currently known
about the contribution of genetics to the origin of congenital heart disease. Techniques are …

Objectives. Although several studies describe the 22q11. 2 deletion, population-based data
are scant. Such data are needed to evaluate properly the impact, distribution, and clinical …

Abstract Chromosome 22q11. 2 deletion syndrome is a common syndrome also known as
DiGeorge syndrome and velocardiofacial syndrome. It occurs in approximately 1: 4000 …

Velocardiofacial syndrome, DiGeorge syndrome, and some other clinical syndromes have in
common a high frequency of hemizygous deletions of chromosome 22q11. 2. This deletion …

This definitive reference work replaces Konigsmark and Gorlin's Genetic and Metabolic
Deafness (1976). Whereas the earlier volume covered 151 genetic conditions related to …

22q11. 2 deletion syndrome (22q11. 2DS) is a disorder caused by recurrent, chromosome‐
specific, low copy repeat (LCR)–mediated copy‐number losses of chromosome 22q11. The …