O'Donnell, Hilary; (1998) A molecular and cytogenetic analysis of chromosome 22q11 and its relevance to birth defects. Doctoral thesis (Ph.D), UCL (University College London).

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Abstract

Human chromosome 22 is one of the smallest human autosomes and has a very rich pathology. Markers from 22q11 have been isolated to facilitate the FISH analysis of patient chromosomal aberrations. Many of the markers isolated have been incorporated into the physical map of chromosome 22. 22q11 duplications on marker chromosomes of Cat Eye syndrome (CES) patients have been examined, and no correlation has been demonstrated between the presence of an extended phenotype and the extent of duplication on the marker chromosome. 22q11 deletions are usually associated with CATCH22 (Cardiac defect. Abnormal facies. Thymic hypoplasia, Cleft palate, Hypocalcaemia and 22q11 deletions). A patient with an atypical 22q11 deletion and a ventricular septal heart defect (VSD), which spontaneously closed, is shown to be dizygous for markers within the shortest region of deletion overlap (SRDO) but hemizygous for more distally located markers. A gene which maps to 22qll has been isolated and characterised. This gene, called the armadillo repeat gene deleted in velo cardio facial syndrome (ARVCF) is a new catenin family member. The murine homologue of ARVCF, and two other 22q11 genes, IDD and ES2, have been mapped by FISH to mouse chromosome 16. The translocation breakpoints of a patient with a constitutional t(8;22), developmental delay, hemihypertrophy, haemangiomata and a late onset B cell immunodeficiency have been defined. YACs and PACs have been identified from the Human Genome Mapping Project Resource Centre (HGMP-RC) which flank a deletion at the 8q24 breakpoint. In summary, new clones have been identified and utilised to fine map the chromosomal breakpoints of patients presenting with a range of developmental defects and the isolation and characterisation of a novel member of the catenin gene family is also described.

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