Congenital heart disease in supernumerary der(22), t(11;22) syndrome

Abstract

Congenital heart disease occurred in 62% of the reported cases of supernumerary der(22) syndrome. These were most commonly acyanotic lesions such as atrial septal defect, ventricular septal defect or patent ductus arteriosus. Heart disease did not, however, appear to be a major determinant of survival.

Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome

“…Last row, supernumerary bisatellited marker, type I (frequent), symmetrical type IIa, rare, asymmetrical type IIb, (rarer), and type III with association of trisomy and tetrasomy of the 22q11.1 region (exceptional). CAT EYE SYNDROME AND TRISOMY 22 translocation, includes severe mental retardation, malformed ears, preauricular skin tags and/or pits, cleft palate, microretrognathia, and conotruncal heart defects [Fraccaro et al, 1980;Lin et al, 1986;Funke et al, 1999]. The der(22) phenotype overlaps CES, but is more severe and includes additional signs attributed to the partial trisomy of 11q, such as congenital diaphragmatic hernia, renal dysplasia, and multiple renal cysts [Bartsch et al, 2005].…”

Congenital bile duct anomalies (biliary atresia) and chromosome 22 aneuploidy

“…Infants with supernumerary der(22) syndrome have an unbalanced constitutional translocation as a result of a 3:1 segregation of a balanced t (11;22) in an unaffected parent [19,20]. Affected infants usually have severe mental retardation, cleft palate, micrognathia, central nervous system anomalies (including Dandy-Walker malformation [21]), cardiac abnormalities, and genital anomalies.…”

Phenotypic expansion of the supernumerary derivative (22) chromosome syndrome: VACTERL and Hirschsprung's disease

“…After 1980, they were considered as having the newly coined Emanuel syndrome. Finally, the most commonly used term is supernumerary derivative 22 chromosome syndrome [8].…”