PRENATAL DIAGNOSIS OF SUPERNUMERARY der(22)t(11;22) ASSOCIATED WITH THE DANDY-WALKER MALFORMATION IN A FETUS

Dandy–Walker syndrome and chromosomal abnormalities

“…2006) and subtelomeric deletions of chromosome 6p (Descipio et al . 2005) in chromosome 6, and partial trisomy 7q (Chen et al . 1996, 2006; Metzke‐Heidemann et al .…”

“…There are cases of DWS associated with partial trisomy 11/22 (Katafuchi et al . 1990; Chen et al . 1996), and Fryns' syndrome and partial trisomy 11/22 (Dean et al .…”

Prenatal diagnosis of partial trisomy 3q resulting from t(3;14) in a fetus with multiple anomalies including vermian hypoplasia

“…But the syndrome has been known to be associated with structural and chromosomal abnormalities, so fetal chromosome analysis is generally recommended. Chromosomal abnormalities such as a partial trisomy of 3p, 9p, 11q, and 16q and a partial monosomy of 1q, 6p, 11q, 12p, and 13q have been reported as being associated with the syndrome (Ballarati et al, 2007;Chen et al, 1996Chen et al, , 2002aChen et al, , 2002bChen et al, , 2005Chen et al, , 2007Poot et al, 2007;Puhl et al, 2010;van Bever et al, 2005). Partial trisomy 3q was also identified in patients with DWS (de Azevedo Moreira et al, 2005;Ounap et al, 2005).…”

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

“…Affected infants usually have severe mental retardation, cleft palate, micrognathia, central nervous system anomalies (including Dandy-Walker malformation [21]), cardiac abnormalities, and genital anomalies. Although Hirschsprung's disease and malrotation have also recently been recognized in isolated cases [22], bile duct abnormalities have not been previously reported.…”