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Title: 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:
; ;  [1]
  1. 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}
}