title: Duplication of (12)(pter-q13.3) combined with deletion of (22)(pter-q11.2) in a patient with features of both chromosome aberrations.
abstract: We report a patient with multiple dysmorphic signs and congenital malformations, representing a combination of clinical features of duplication (12p) and deletion (22)(q11.2) syndromes. The girl had overgrowth at birth, showed abnormal cranio-facial findings, cleft uvula, a complex conotruncal heart defect, a polycystic right kidney, and an umbilical hernia. She died at the age of 6 months of cardio-respiratory failure. Cytogenetic examination demonstrated a derivative chromosome 12 replacing one of the two chromosomes 22. The paternal karyotype was normal 46,XY while the mother's karyotype was 46,XX,rcp(12;22)(q13.2;q11.2). According to the published data, all patients with deletion 22q11.2 combined with other unbalanced chromosomal aberration have a more severe clinical expression than those with interstitial deletions.
authors.affiliation: Institute of Medical Genetics, University of Zurich, Zurich, Schorenstrasse 16, CH-8603, Schwerzenbach, Switzerland.
authors.forename: Nataliya A
authors.initials: NA
authors.lastname: Tyshchenko
authors.forename: Mariluce
authors.initials: M
authors.lastname: Riegel
authors.forename: Elena G
authors.initials: EG
authors.lastname: Evseenkova
authors.forename: Tatjana E
authors.initials: TE
authors.lastname: Zerova
authors.forename: Nataliya G
authors.initials: NG
authors.lastname: Gorovenko
authors.forename: Albert
authors.initials: A
authors.lastname: Schinzel
mesh_terms: D002869:Chromosome Aberrations; D002881:Chromosomes, Human, Pair 12; D002892:Chromosomes, Human, Pair 22; D017809:Fatal Outcome; D005260:Female; D017353:Gene Deletion; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping