Submicroscopic deletion of chromosome region 16p13.3 in a Japanese patient with Rubinstein-Taybi syndrome

Journal Article · Thu Dec 01 00:00:00 EST 1994 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320530409· OSTI ID:61994

Masuno, Mitsuo; Imaizumi, Kiyoshi; Kurosawa, Kenji; Makita, Yoshio; Kuroki, Yoshikazu ^[1]; Petrij, F; Dauwerse, H G; Breuning, M H ^[2]

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1. Kanagawa Children`s Medical Center, Yokohama (Japan)
2. Leiden Univ. (Netherlands)

In a series of 25 Japanese patients with Rubinstein-Taybi syndrome, we screened, by high-resolution GTG banding and fluorescence in situ hybridization of a cosmid probe (RT1, D16S237), for microdeletions associated with this syndrome. In one patient, a microdeletion was demonstrated by in situ hybridization, but none were detected by high-resolution banding. 11 refs., 2 figs.

• Sponsoring Organization: USDOE
• OSTI ID: 61994
• Journal Information: American Journal of Medical Genetics, Vol. 53, Issue 4; Other Information: PBD: 1 Dec 1994
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
HUMAN CHROMOSOME 16
CHROMOSOMAL ABERRATIONS
DNA HYBRIDIZATION
FLUORESCENCE
PATIENTS
MENTAL DISORDERS
HEREDITARY DISEASES
CONGENITAL MALFORMATIONS
JAPAN
GENES
BANDING TECHNIQUES