Cat eye syndrome associated with aganglionosis of the small and large intestine.

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

“…Bowel biopsy showed concomitant Hirschsprung's disease, a finding that has been described once previously in the supernumerary der (22) chromosome syndrome [20]. He also had the additional intestinal phenotype of intestinal malrotation, which has not been previously reported in the supernumerary der(22) chromosome syndrome.…”

“…Thus, we advocate Hirschsprung's disease testing among children having supernumerary der (22) chromosome syndrome with constipation. Hirschsprung's disease with an imperforate anus has been observed in cases of cat eye syndrome as well [21,22].…”

“…Carriers of this balanced constitutional t (11;22) translocation are phenotypically healthy but are at risk of having a progeny with supernumerary der(22)t (11;22) syndrome as a result of 3:1 meiosis I malsegregation of the der (22). There have been more than 200 reports of this unbalanced karyotype 47,XX(or XY),+der (22),t(11q;22q) (q23;q11.2) (http: //mti-n.mti.uni-jena.de /~huwww/MOL_ ZYTO/sSMC/22.htm#der22). It seems that there is no unified terminology for this same chromosome 22 abnormality; initially, patients were defined as having partial trisomy 22 or partial trisomy 11q.…”

“…The balanced t(11;22) (q23;q11.2) translocation is the only known recurrent nonRobertsonian constitutional translocation in human beings. Progenies of these asymptomatic carriers may manifest supernumerary derivative (22) [der (22)] (Emanuel syndrome, OMIM [Online Mendelian Inheritance in Man] 609029), with a karyotype of 47,XY,+der(22)t(11;22)(q23; q11.2) or 47,XX,+der(22)t(11;22)(q23;q11.2) [1]. The phenotype of supernumerary derivative (22)t (11;22) syndrome [der (22) syndrome] includes severe mental and growth retardation, developmental delay, preauricular tag or sinus, ear anomalies, cleft or high-arched palate, micrognathia, microcephaly, kidney abnormalities (absent or hypoplastic), cardiovascular defects (aortic coarctation, persistent left superior vena cava, atrial septal defect [ASD], ventricular septal defect, pulmonic stenosis, single umbilical artery), anorectal malformations (tight anal sphincter, anteriorly displaced anus, imperforate anus with fistula), male genital abnormalities (undescended testes, inguinal hernia, small phallus, hypospadias), extra ribs, congenital hip dislocation, hypotonia, seizures, and cerebellar dysplasia [1].…”

“…In these patients' families, the phenotypically healthy mother carries the balanced t(11;22) translocation but the affected son has supernumerary der (22) Whole-genome oligonucleotide microarray CGH performed by NimbleGen on patient 1's sample. The relative intensity of the test sample vs the reference DNA (from pooled healthy male patients) is indicated on a log 2 scale such that a partial trisomy (an additional copy) would theoretically yield a segment of 1.…”