Chromosome 22q11 deletion and other chromosome aberrations in cases with cleft palate, congenital heart defects and/or mental disability. A survey based on the Danish Facial Cleft Register

Clinical Genetics
K Brøndum-Nielsen, K Christensen

Abstract

Velo-cardio-facial syndrome (VCFS) is a syndrome associated with haplo-insufficiency of genes at chromosome 22q11. The syndrome has a broad phenotypic spectrum including multiple anomalies, of which cleft palate (CP), congenital heart defects (CHD), and mental disabilities are among the most common. Hence, a high prevalence of 22q11 deletions should be expected among cases with a combination of CP and CHD or/and mental disability. In Denmark a population-based database comprising 2301 CP cases born 1936-1987 has been established. Cases with CP and CHD or/and mental disabilities were selected from the register. By using public registers 39 living cases were identified, among whom 15 agreed to blood sampling and testing for 22q11 deletion using FISH (fluorescence in situ hybridization) analysis. Four deletion cases were identified. Using a polymorphic microsatellite marker (D22S264), two cases were shown to be de novo deletions of maternal origin. The parental origin in the two other cases could not be determined. The patients ranged in age from 7 to 40 years. All patients had mental impairment, and one also showed signs of paranoid psychosis. Two cases had CHD. Furthermore, five cases previously karyotyped had other chromosomal ...Continue Reading

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Citations

Jul 27, 2002·Annual Review of Genomics and Human Genetics·Ken Inoue, James R Lupski
Jul 9, 2003·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Linda P JakobsenKaare Christensen
Sep 24, 1999·American Journal of Medical Genetics·E CohenA S Bassett
Apr 23, 1999·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·K Christensen
Oct 29, 2009·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Els-Marie AnderssonGunvor Semb
Jun 11, 2021·BMC Medical Genomics·Trenell J MosleyJennifer G Mulle

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