Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13. 3

Journal Article · Mon Feb 01 04:00:00 EST 1993 · American Journal of Human Genetics; (United States)

OSTI ID:6831186

Breuning, M H; Dauwerse, H G; Fugazza, G; Saris, J J; Spruit, L; Winjnen, H; Beverstock, G C; Ommen, G J.B. van ^[1]; Tommerup, N ^[2]; Hagen, C.B. van der ^[3]; Imaizumi, Kiyoshi; Kuroki, Yoshikazu ^[4]; Boogaard, M.J. van den; Pater, J.M. de; Hennekam, R C.M. ^[5]; Mariman, E C.M.; Hamel, B C.J. ^[6]; Himmelbauer, H; Frischauf, A M ^[7]; Stallings, R L ^[8]

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1. Leiden Univ. (Netherlands)
2. John F. Kennedy Inst., Glostrup (Denmark) Avd. for Medisinsk Genetikk, Oslo (Norway)
3. John F. Kennedy Inst., Glostrup (Denmark)
4. Kanagawa Children's Medical Center, Yokohama (Japan)
5. Clinical Genetics Center, Utrecht (Netherlands)
6. University Hospital, Nijmegen (Netherlands)
7. Imperial Cancer Research Fund Laboratories, London (United Kingdom)
8. Los Alamos National Lab., NM (United States)

The Rubinstein-Taybi syndrome (RTS) is a well-defined complex of congenital malformations characterized by facial abnormalities, broad thumbs and big toes, and mental retardation. The breakpoint of two distinct reciprocal translocations occurring in patients with a clinical diagnosis of RTS was located to the same interval on chromosome 16, between the cosmids N2 and RT1, in band 16p13.3. By using two-color fluorescence in situ hybridization, the signal from RT1 was found to be missing from one chromosome 16 in 6 of 24 patients with RTS. The parents of five of these patients did not show a deletion of RT1, indicating a de novo rearrangement. RTS is caused by submicroscopic interstitial deletions within 16p13.3 in approximately 25% of the patients. The detection of microdeletions will allow the objective confirmation of the clinical diagnosis in new patients and provides an excellent tool for the isolation of the gene causally related to the syndrome. 32 refs., 2 figs.

• OSTI ID: 6831186
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 52:2; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
CHROMOSOMAL ABERRATIONS
CHROMOSOMES
CONGENITAL MALFORMATIONS
COSMIDS
DETECTION
DIAGNOSIS
DNA HYBRIDIZATION
FLUORESCENCE
HUMAN CHROMOSOME 16
HUMAN CHROMOSOMES
HYBRIDIZATION
LUMINESCENCE
MALFORMATIONS
MAPPING
MENTAL DISORDERS
MUTATIONS
PATHOLOGICAL CHANGES
PATIENTS