Delineation of a clinical syndrome caused by mosaic trisomy 15
Abstract
We report on a boy with mosaic trisomy 15. The clinical manifestations are compared with those of the few cases reported up to now. A clinical syndrome is delineated consisting of a characteristic shape of the nose and other minor craniofacial anomalies, as well as typical deformities of the hands and feet. Different degrees of mosaicism may explain the more or less severe manifestations in individual patients. 10 refs., 4 figs., 1 tab.
- Authors:
-
- Univ. Children`s Hospital, Basel (Switzerland)
- Publication Date:
- Sponsoring Org.:
- USDOE
- OSTI Identifier:
- 391063
- Resource Type:
- Journal Article
- Journal Name:
- American Journal of Medical Genetics
- Additional Journal Information:
- Journal Volume: 62; Journal Issue: 2; Other Information: PBD: 15 Mar 1996
- Country of Publication:
- United States
- Language:
- English
- Subject:
- 55 BIOLOGY AND MEDICINE, BASIC STUDIES; HUMAN CHROMOSOME 15; MOSAICISM; CHROMOSOMAL ABERRATIONS; GENETIC MAPPING; HETEROCHROMOSOMES; ANEUPLOIDY; PATIENTS; HEREDITARY DISEASES; CONGENITAL MALFORMATIONS; PHENOTYPE; BANDING TECHNIQUES; FLUORESCENCE; DNA HYBRIDIZATION; GENETICS
Citation Formats
Buehler, E M, Bienz, G, Straumann, E, and Bosceh, N. Delineation of a clinical syndrome caused by mosaic trisomy 15. United States: N. p., 1996.
Web. doi:10.1002/(SICI)1096-8628(19960315)62:2<109::AID-AJMG2>3.0.CO;2-R.
Buehler, E M, Bienz, G, Straumann, E, & Bosceh, N. Delineation of a clinical syndrome caused by mosaic trisomy 15. United States. https://doi.org/10.1002/(SICI)1096-8628(19960315)62:2<109::AID-AJMG2>3.0.CO;2-R
Buehler, E M, Bienz, G, Straumann, E, and Bosceh, N. 1996.
"Delineation of a clinical syndrome caused by mosaic trisomy 15". United States. https://doi.org/10.1002/(SICI)1096-8628(19960315)62:2<109::AID-AJMG2>3.0.CO;2-R.
@article{osti_391063,
title = {Delineation of a clinical syndrome caused by mosaic trisomy 15},
author = {Buehler, E M and Bienz, G and Straumann, E and Bosceh, N},
abstractNote = {We report on a boy with mosaic trisomy 15. The clinical manifestations are compared with those of the few cases reported up to now. A clinical syndrome is delineated consisting of a characteristic shape of the nose and other minor craniofacial anomalies, as well as typical deformities of the hands and feet. Different degrees of mosaicism may explain the more or less severe manifestations in individual patients. 10 refs., 4 figs., 1 tab.},
doi = {10.1002/(SICI)1096-8628(19960315)62:2<109::AID-AJMG2>3.0.CO;2-R},
url = {https://www.osti.gov/biblio/391063},
journal = {American Journal of Medical Genetics},
number = 2,
volume = 62,
place = {United States},
year = {Fri Mar 15 00:00:00 EST 1996},
month = {Fri Mar 15 00:00:00 EST 1996}
}
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