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

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

OSTI ID:6831180

Hennekam, R C.M.; Tilanus, M; Hamel, B C.J.; Voshart-van Heeren, H; Mariman, E C.M.; Beersum, S E.C. van ^[1]; Breuning, M H ^[2]

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1. University Hospital, Nijmegen (Netherlands)
2. Clinical Genetics Center, Rotterdam (Netherlands)

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. The authors 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. 26 refs., 3 tabs., 2 figs.

• OSTI ID: 6831180
• Journal Information: American Journal of Human Genetics; (United States), Vol. 52:2; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

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