Author:

Keywords:

Abnormalities, Multiple, Adolescent, Adult, Chromosomes, Human, Pair 10, Chromosomes, Human, Pair 4, Female, Humans, Immunologic Deficiency Syndromes, In Situ Hybridization, Fluorescence, Mental Retardation, Pedigree, Phenotype, Translocation, Genetic, Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, arthritis, atopic dermatitis, chromosomal translocation, immune defect, deletion 4q35, duplication 10q15, LONG ARM, TERMINAL DELETION, CHROMOSOME-4, DISTINCT, TRISOMY, FAMILY, Intellectual Disability, 0604 Genetics, 1103 Clinical Sciences, 3105 Genetics, 3202 Clinical sciences

Abstract:

We report a familial cryptic reciprocal translocation between 4q35 and 10p15 leading to deletion of the terminal long arm of chromosome 4 and duplication of the terminal short arm of chromosome 10 in two family members who both have immunological disturbances and a similar facial appearance. The precise location and extent of the deletion and duplication was determined by fluorescence in situ hybridization (FISH). Furthermore, we investigated the deletion breakpoint of a previously reported patient with 4q34.3-qter deletion [Van Buggenhout et al. (2004); Am J Med Genet Part A 131A:186-189].