De novo apparently balanced reciprocal translocation between 5q11.2 and 17q23 associated with Klippel-Feil anomaly and type A1 brachydactyly
Abstract
We report on a girl with Klippel-Feil anomaly, type A1 brachydactyly, and minor facial anomalies. She has an apparently balanced de novo reciprocal translocation between 5q11.2 and 17q23. The possible significance of this chromosomal abnormality is discussed. 7 refs., 3 figs.
- Authors:
-
- Saitama Children`s Medical Center (Japan)
- Publication Date:
- Sponsoring Org.:
- USDOE
- OSTI Identifier:
- 105211
- Resource Type:
- Journal Article
- Journal Name:
- American Journal of Medical Genetics
- Additional Journal Information:
- Journal Volume: 57; Journal Issue: 3; Other Information: PBD: 3 Jul 1995
- Country of Publication:
- United States
- Language:
- English
- Subject:
- 55 BIOLOGY AND MEDICINE, BASIC STUDIES; HUMAN CHROMOSOME 5; CHROMOSOMAL ABERRATIONS; HUMAN CHROMOSOME 17; PATIENTS; KARYOTYPE; CONGENITAL MALFORMATIONS; HEREDITARY DISEASES; BANDING TECHNIQUES; DOMINANT MUTATIONS
Citation Formats
Fukushima, Yoshimitsu, Ohashi, Hirofumi, and Wakui, Keiko. De novo apparently balanced reciprocal translocation between 5q11.2 and 17q23 associated with Klippel-Feil anomaly and type A1 brachydactyly. United States: N. p., 1995.
Web. doi:10.1002/ajmg.1320570317.
Fukushima, Yoshimitsu, Ohashi, Hirofumi, & Wakui, Keiko. De novo apparently balanced reciprocal translocation between 5q11.2 and 17q23 associated with Klippel-Feil anomaly and type A1 brachydactyly. United States. https://doi.org/10.1002/ajmg.1320570317
Fukushima, Yoshimitsu, Ohashi, Hirofumi, and Wakui, Keiko. 1995.
"De novo apparently balanced reciprocal translocation between 5q11.2 and 17q23 associated with Klippel-Feil anomaly and type A1 brachydactyly". United States. https://doi.org/10.1002/ajmg.1320570317.
@article{osti_105211,
title = {De novo apparently balanced reciprocal translocation between 5q11.2 and 17q23 associated with Klippel-Feil anomaly and type A1 brachydactyly},
author = {Fukushima, Yoshimitsu and Ohashi, Hirofumi and Wakui, Keiko},
abstractNote = {We report on a girl with Klippel-Feil anomaly, type A1 brachydactyly, and minor facial anomalies. She has an apparently balanced de novo reciprocal translocation between 5q11.2 and 17q23. The possible significance of this chromosomal abnormality is discussed. 7 refs., 3 figs.},
doi = {10.1002/ajmg.1320570317},
url = {https://www.osti.gov/biblio/105211},
journal = {American Journal of Medical Genetics},
number = 3,
volume = 57,
place = {United States},
year = {Mon Jul 03 00:00:00 EDT 1995},
month = {Mon Jul 03 00:00:00 EDT 1995}
}
Other availability
Save to My Library
You must Sign In or Create an Account in order to save documents to your library.