title: DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion.
abstract: DiGeorge anomaly/velocardiofacial syndrome (DG/VCFS) occurs with different deletion intervals on chromosomes 22q11, while the DiGeorge anomaly (with other findings) is seen in patients with deletions of 10p14. The clinical outcome with the common 22q11 deletion (90% of cases) is well known, but the outcome with the less frequent deletion types has not been well documented. Using cytogenetic and fluorescence in situ hybridization (FISH) analysis we studied a series of 295 patients with suspected DG/VCFS. We identified 58 subjects with a 22q11 deletion, and none with a 10p deletion. Fifty-two subjects had the common deletion, five had the proximal deletion, and one had an atypical proximal deletion due to a 1;22 translocation. We report clinical data of four subjects with the proximal 22q11 microdeletion, and of one patient with the atypical proximal deletion. The anomalies observed with the proximal 22q11 microdeletion fell within the DG/VCFS spectrum. Two females, 6 and 25 years old, had normal mental development. Normal development has been reported with the common 22q11 deletion, but only in a minority of cases. This study may indicate a better intellectual and/or behavioral outcome with the proximal vs. the common 22q11 deletion, rather than a chance finding.
authors.affiliation: Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany. obartsch@rcs.urz.tu-dresden.de
authors.forename: Oliver
authors.initials: O
authors.lastname: Bartsch
authors.forename: Michaela
authors.initials: M
authors.lastname: Nemecková
authors.forename: Eduard
authors.initials: E
authors.lastname: Kocárek
authors.forename: Annett
authors.initials: A
authors.lastname: Wagner
authors.forename: Alena
authors.initials: A
authors.lastname: Puchmajerová
authors.forename: Maja
authors.initials: M
authors.lastname: Poppe
authors.forename: Katrin
authors.initials: K
authors.lastname: Ounap
authors.forename: Petr
authors.initials: P
authors.lastname: Goetz
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000473:pathology*; D004062:DiGeorge Syndrome / Q000473:pathology*; D005260:Female; D006330:Heart Defects, Congenital / Q000473:pathology*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D013577:Syndrome