Development profile in a patient with monosomy 10q and Dup(17p) associated with a peripheral neuropathy
Abstract
We report on a patient with dup(17p) and monosomy (10q) resulting from a familial translocation. Manifestations typical of both syndromes were present. The overall development of this patient was better by comparison with similar reported cases of either anomaly. Our evaluation detected severe gross motor delay and signs of a demyelinating peripheral neuropathy. This patient is trisomic for the region of 17p which includes the peripheral myelin protein-22 (PMP-22) gene, known to be duplicated in Charcot-Marie-Tooth neuropathy type 1A (CMT1A). Our analysis in this patient suggests that trisomy for the PMP-22 gene led to the demyelinating neuropathy and contributed to his severe motor development delay. 33 refs., 3 figs., 1 tab.
- Authors:
-
- Childrens Hospital of Philadelphia, PA (United States); and others
- Publication Date:
- OSTI Identifier:
- 401805
- Resource Type:
- Journal Article
- Journal Name:
- American Journal of Medical Genetics
- Additional Journal Information:
- Journal Volume: 61; Journal Issue: 4; Other Information: PBD: 2 Feb 1996
- Country of Publication:
- United States
- Language:
- English
- Subject:
- 55 BIOLOGY AND MEDICINE, BASIC STUDIES; HUMAN CHROMOSOMES; CHROMOSOMAL ABERRATIONS; GENETIC MAPPING; HUMAN CHROMOSOME 17; PATIENTS; NERVOUS SYSTEM DISEASES; HEREDITARY DISEASES; PHENOTYPE; KARYOTYPE; GENES; GENE MUTATIONS; PROTEINS; PROBES; DNA HYBRIDIZATION
Citation Formats
Pellegrino, J E, Spinner, N B, and Zackai, E H. Development profile in a patient with monosomy 10q and Dup(17p) associated with a peripheral neuropathy. United States: N. p., 1996.
Web. doi:10.1002/(SICI)1096-8628(19960202)61:4<377::AID-AJMG13>3.0.CO;2-P.
Pellegrino, J E, Spinner, N B, & Zackai, E H. Development profile in a patient with monosomy 10q and Dup(17p) associated with a peripheral neuropathy. United States. https://doi.org/10.1002/(SICI)1096-8628(19960202)61:4<377::AID-AJMG13>3.0.CO;2-P
Pellegrino, J E, Spinner, N B, and Zackai, E H. 1996.
"Development profile in a patient with monosomy 10q and Dup(17p) associated with a peripheral neuropathy". United States. https://doi.org/10.1002/(SICI)1096-8628(19960202)61:4<377::AID-AJMG13>3.0.CO;2-P.
@article{osti_401805,
title = {Development profile in a patient with monosomy 10q and Dup(17p) associated with a peripheral neuropathy},
author = {Pellegrino, J E and Spinner, N B and Zackai, E H},
abstractNote = {We report on a patient with dup(17p) and monosomy (10q) resulting from a familial translocation. Manifestations typical of both syndromes were present. The overall development of this patient was better by comparison with similar reported cases of either anomaly. Our evaluation detected severe gross motor delay and signs of a demyelinating peripheral neuropathy. This patient is trisomic for the region of 17p which includes the peripheral myelin protein-22 (PMP-22) gene, known to be duplicated in Charcot-Marie-Tooth neuropathy type 1A (CMT1A). Our analysis in this patient suggests that trisomy for the PMP-22 gene led to the demyelinating neuropathy and contributed to his severe motor development delay. 33 refs., 3 figs., 1 tab.},
doi = {10.1002/(SICI)1096-8628(19960202)61:4<377::AID-AJMG13>3.0.CO;2-P},
url = {https://www.osti.gov/biblio/401805},
journal = {American Journal of Medical Genetics},
number = 4,
volume = 61,
place = {United States},
year = {Fri Feb 02 00:00:00 EST 1996},
month = {Fri Feb 02 00:00:00 EST 1996}
}