| Submicroscopic deletion of chromosome region 16p13.3 in a Japanese patient with Rubinstein-Taybi syndrome. | |
| | |
MedLine Citation:
|
PMID: 7864045 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
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. |
| | |
Authors:
|
M Masuno; K Imaizumi; K Kurosawa; Y Makita; F Petrij; H G Dauwerse; M H Breuning; Y Kuroki |
Related Documents
:
|
19685135 - Anesthetic management of a patient with alport-leiomyomatosis syndrome. 15321575 - Epidural anesthesia for cesarean section in a patient with eisenmenger's syndrome. 8528445 - Modalities of treatment for the combination syndrome. 22323985 - Pathophysiologic findings of irritable bowel syndrome in china. 4034515 - An epidemiologic study of the carpal tunnel syndrome in an adult female population. 7247825 - Laryngeal web, congenital heart disease and low stature. a syndrome? |
Publication Detail:
|
Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
|
Title: American journal of medical genetics Volume: 53 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1994 Dec |
Date Detail:
|
Created Date: 1995-03-22 Completed Date: 1995-03-22 Revised Date: 2006-11-15 |
Medline Journal Info:
|
Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
|
Languages: eng Pagination: 352-4 Citation Subset: IM |
Affiliation:
|
Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adolescent Adult Cheek Child Child, Preschool Chromosome Deletion* Chromosomes, Human, Pair 16* Cytogenetics / methods Female Humans In Situ Hybridization, Fluorescence Infant Japan / epidemiology Male Mouth Mucosa* Pregnancy Rubinstein-Taybi Syndrome / epidemiology, genetics* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Autosomal dominant (Beukes) premature degenerative osteoarthropathy of the hip joint unlinked to COL...
Next Document: Potential use of buccal smears for rapid diagnosis of autosomal trisomy or chromosomal sex in newbor...