Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome : clinical aspects

• Published in: American journal of human genetics Vol. 52; no. 2; pp. 255 - 262
• Main Authors: HENNEKAM, R. C. M, TILANUS, M, HAMEL, B. C. J, VOSHART-VAN HEEREN, H, MARIMAN, E. C. M, VAN BEERSUM, S. E. C, VAN DEN BOOGAARD, M.-J. H, BREUNING, M. H
• Format: Journal Article
• Language: English
• Published: Chicago, IL University of Chicago Press 01-02-1993
• Subjects: Adolescent; Adult; Biological and medical sciences; Child; Child, Preschool; chromosome 16; Chromosome Deletion; Chromosomes, Human, Pair 16; clinical aspects; Complex syndromes; deletion; Female; Humans; Male; man; Medical genetics; Medical sciences; Parents; Phenotype; Rubinstein-Taybi syndrome; Rubinstein-Taybi Syndrome - genetics; Rubinstein-Taybi Syndrome - pathology; Chromosomal aberration; Human; Molecular hybridization; Nervous system diseases; Family study; In situ; Rubinstein Taybi dwarfism; Diseases of the osteoarticular system; Etiopathogenesis; Fluorescence; Exploration; Abnormal E16 chromosome; Congenital disease; Segregation analysis; Phenotype; Malformation; Cytogenetics; Deletion; Abnormal chromosome; Complex syndrome; Male genital diseases
• ISSN: 0002-9297; 1537-6605

In the accompanying paper, a chromosomal localization of the Rubinstein-Taybi syndrome by cytogenetic investigations with fluorescence in situ hybridization techniques at chromosome 16p13.3 is described. We investigated 19 of these patients and their parents (a) to ascertain the parental origin of the chromosome with the deletion in families where such a deletion was detected, (b) to disclose whether uniparental disomy plays a role in etiology, and (c) to compare clinical features in patients with a deletion to those in individuals in whom deletions were not detectable. Molecular studies showed a copy of chromosome 16 from each parent in all 19 patients. Uniparental disomy was also excluded for five other chromosome arms known to be imprinted in mice. None of the probes used for determining the origin of the deleted chromosome proved to be informative. The clinical features were essentially the same in patients with and without visible deletion, with a possible exception for the incidence of microcephaly, angulation of thumbs and halluces, and partial duplication of the halluces. A small deletion at 16p13.3 may be found in some patients with Rubinstein-Taybi syndrome. Cytogenetically undetectable deletions, point mutations, mosaicism, heterogeneity, or phenocopy by a nongenetic cause are the most probable explanations for the absence of cytogenetic or molecular abnormalities in other patients with Rubinstein-Taybi syndrome.