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Title: De novo interstitial tandem duplication of chromosome 4(q21-q28)

Abstract

We describe a girl with a previously unreported de novo duplication of chromosome 4q involving segment q21-q28. Clinical manifestations included growth and psychomotor retardation, facial asymmetry, hypotelorism, epicanthic folds, mongoloid slant of palpebral fissures, apparently low-set auricles, high nasal bridge, long philtrum, small mouth, short neck, low-set thumbs, and bilateral club foot. This phenotype is compared with that of previously reported cases of duplication 4q. 12 refs., 3 figs., 1 tab.

Authors:
; ;  [1]
  1. Hospital Virgen de la Arrixaca, Murcia (Spain); and others
Publication Date:
OSTI Identifier:
426145
Resource Type:
Journal Article
Journal Name:
American Journal of Medical Genetics
Additional Journal Information:
Journal Volume: 62; Journal Issue: 3; Other Information: PBD: 29 Mar 1996
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; HUMAN CHROMOSOMES; CHROMOSOMAL ABERRATIONS; GENETIC MAPPING; PATIENTS; HEREDITARY DISEASES; CONGENITAL MALFORMATIONS; MENTAL DISORDERS; PHENOTYPE; KARYOTYPE; DNA HYBRIDIZATION; FLUORESCENCE; BANDING TECHNIQUES

Citation Formats

Navarro, E G, Ramon, F J.H., and Jimenez, R D. De novo interstitial tandem duplication of chromosome 4(q21-q28). United States: N. p., 1996. Web. doi:10.1002/(SICI)1096-8628(19960329)62:3<297::AID-AJMG18>3.0.CO;2-F.
Navarro, E G, Ramon, F J.H., & Jimenez, R D. De novo interstitial tandem duplication of chromosome 4(q21-q28). United States. https://doi.org/10.1002/(SICI)1096-8628(19960329)62:3<297::AID-AJMG18>3.0.CO;2-F
Navarro, E G, Ramon, F J.H., and Jimenez, R D. 1996. "De novo interstitial tandem duplication of chromosome 4(q21-q28)". United States. https://doi.org/10.1002/(SICI)1096-8628(19960329)62:3<297::AID-AJMG18>3.0.CO;2-F.
@article{osti_426145,
title = {De novo interstitial tandem duplication of chromosome 4(q21-q28)},
author = {Navarro, E G and Ramon, F J.H. and Jimenez, R D},
abstractNote = {We describe a girl with a previously unreported de novo duplication of chromosome 4q involving segment q21-q28. Clinical manifestations included growth and psychomotor retardation, facial asymmetry, hypotelorism, epicanthic folds, mongoloid slant of palpebral fissures, apparently low-set auricles, high nasal bridge, long philtrum, small mouth, short neck, low-set thumbs, and bilateral club foot. This phenotype is compared with that of previously reported cases of duplication 4q. 12 refs., 3 figs., 1 tab.},
doi = {10.1002/(SICI)1096-8628(19960329)62:3<297::AID-AJMG18>3.0.CO;2-F},
url = {https://www.osti.gov/biblio/426145}, journal = {American Journal of Medical Genetics},
number = 3,
volume = 62,
place = {United States},
year = {Fri Mar 29 00:00:00 EST 1996},
month = {Fri Mar 29 00:00:00 EST 1996}
}