Growth in Chilean infants with chromosome 22q11 microdeletion syndrome

Chromosome 15q24 microdeletion syndrome

Chromosome 15q24 microdeletion syndrome is a recently described rare microdeletion syndrome that has been reported in 19 individuals. It is characterized by growth retardation, intellectual disability, and distinct facial features including long face with high anterior hairline, hypertelorism, epicanthal folds, downslanting palpebral fissures, sparse and broad medial eyebrows, broad and/or depr...

Prevalence of 22q11 microdeletion.

Microdeletion 22q11 and oesophageal atresia.

Oesophageal atresia (OA) is a congenital defect associated with additional malformations in 30-70% of the cases. In particular, OA is a component of the VACTERL association. Since some major features of the VACTERL association, including conotruncal heart defect, radial aplasia, and anal atresia, have been found in patients with microdeletion 22q11.2 (del(22q11.2)), we have screened for del(22q...

Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome.

DiGeorge (DGS) and velocardiofacial (VCFS) syndromes are frequently associated with microdeletions within the 22q 11 region. The phenotypic spectrum is broad and microdeletions have been found in asymptomatic adults and children with quite subtle manifestations. The severity of the phenotype does not correlate with the extent of the deletion. The 22ql 1 region contains moderately repetitive seq...

Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study

OBJECTIVE Chromosome 22q11.2 deletion is the most commonly occurring known microdeletion syndrome. Deaths related to the syndrome have been reported, but the magnitude of death has not been quantified. This study evaluated the deletion's impact on survival and its clinical manifestations in a large cohort of Chilean patients. DESIGN Demographic and clinical data of individuals with 22q11 dele...