TY - JOUR
T1 - Phenotypic expansion of the supernumerary derivative (22) chromosome syndrome
T2 - VACTERL and Hirschsprung's disease
AU - Prieto, Juan C.
AU - Garcia, Nilda M.
AU - Elder, Frederick F.
AU - Zinn, Andrew R.
AU - Baker, Linda A.
N1 - Funding Information:
This study was funded in part by an individual project grant from the Children's Medical Center at Dallas/Children's Foundation (Principal Investigator: Garcia; Co-Principal Investigator: Baker; Co-Investigator: Zinn).
Copyright:
Copyright 2008 Elsevier B.V., All rights reserved.
PY - 2007/11
Y1 - 2007/11
N2 - Phenotypically healthy carriers of the balanced 11;22 translocation, the most frequent non-Robertsonian constitutional translocation known in human beings, are at risk of having a progeny with supernumerary derivative (22)t(11;22) syndrome [der(22) syndrome]. We present the cases of 2 male patients with supernumerary der(22) syndrome [47,XY,+der(22)t(11;22)(q23;q11.2)mat], yielding partial trisomy for 22pter-q11 and 11q23-qter. These cases expand the phenotype of the der(22) syndrome, with the first case highlighting the phenotypic overlap of VACTERL and the second adding Hirschsprung's disease and intestinal malrotation to the list of associated anorectal anomalies. Because der(22) syndrome and cat eye syndrome (partial tetrasomy of 22q11) share a similar region of extra dosage on 22q11 and both typically manifest an anorectal phenotype, a dosage-sensitive gene for anorectal anomalies may be present in this locus.
AB - Phenotypically healthy carriers of the balanced 11;22 translocation, the most frequent non-Robertsonian constitutional translocation known in human beings, are at risk of having a progeny with supernumerary derivative (22)t(11;22) syndrome [der(22) syndrome]. We present the cases of 2 male patients with supernumerary der(22) syndrome [47,XY,+der(22)t(11;22)(q23;q11.2)mat], yielding partial trisomy for 22pter-q11 and 11q23-qter. These cases expand the phenotype of the der(22) syndrome, with the first case highlighting the phenotypic overlap of VACTERL and the second adding Hirschsprung's disease and intestinal malrotation to the list of associated anorectal anomalies. Because der(22) syndrome and cat eye syndrome (partial tetrasomy of 22q11) share a similar region of extra dosage on 22q11 and both typically manifest an anorectal phenotype, a dosage-sensitive gene for anorectal anomalies may be present in this locus.
KW - Hirschsprung's disease
KW - Microarray comparative genomic hybridization
KW - Site-specific translocation t (11;22)
KW - Supernumerary der(22)
KW - VACTERL association
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U2 - 10.1016/j.jpedsurg.2007.07.030
DO - 10.1016/j.jpedsurg.2007.07.030
M3 - Article
C2 - 18022449
AN - SCOPUS:36049042956
VL - 42
SP - 1928
EP - 1932
JO - Journal of Pediatric Surgery
JF - Journal of Pediatric Surgery
SN - 0022-3468
IS - 11
ER -