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Title: Two patients with duplication of 17p11.2: The reciprocal of the Smith-Magenis syndrome deletion?

Abstract

J.M. and H.G. are two unrelated male patients with developmental delay. Cytogenetic analysis detected a duplication of 17p11.2 in both patients. The extent of the duplicated region was determined using single copy DNA probes: cen-D17S58-D17S29-D17S258-D17S71-D17S445-D17S122-tel. Four of the six markers, D17S29, D17S258, D17S71, and D17S445, were duplicated by dosage analysis. Fluorescent in situ hybridization (FISH) analysis of H.G., using cosmids for locus D17S29, confirmed the duplication in 17p11.2. Because the deletion that causes the Smith-Magenis syndrome involves the same region of 17p11.2 as the duplication in these patients, the mechanism may be similar to that proposed for the reciprocal deletion/ duplication event observed in Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) and Charcot-Marie-Tooth Type 1A disease (CMT1A). 30 refs., 3 figs., 1 tab.

Authors:
 [1]; ;  [2]
  1. Greenwood Genetic Center, SC (United States)
  2. Greenwood Genetic Center, SC (United States); and others
Publication Date:
OSTI Identifier:
539191
Resource Type:
Journal Article
Journal Name:
American Journal of Medical Genetics
Additional Journal Information:
Journal Volume: 63; Journal Issue: 2; Other Information: PBD: 17 May 1996
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; PATIENTS; HEREDITARY DISEASES; MENTAL DISORDERS; CONGENITAL MALFORMATIONS; DIAGNOSIS; HUMAN CHROMOSOME 17; GENETIC MAPPING; CHROMOSOMAL ABERRATIONS; DNA SEQUENCING; PROBES; FLUORESCENCE; IN-SITU HYBRIDIZATION; COSMIDS; BIOLOGICAL MARKERS

Citation Formats

Brown, A, Clemson Univ., SC, Phelan, M C, and Rogers, R C. Two patients with duplication of 17p11.2: The reciprocal of the Smith-Magenis syndrome deletion?. United States: N. p., 1996. Web. doi:10.1002/(SICI)1096-8628(19960517)63:2<373::AID-AJMG9>3.0.CO;2-U.
Brown, A, Clemson Univ., SC, Phelan, M C, & Rogers, R C. Two patients with duplication of 17p11.2: The reciprocal of the Smith-Magenis syndrome deletion?. United States. https://doi.org/10.1002/(SICI)1096-8628(19960517)63:2<373::AID-AJMG9>3.0.CO;2-U
Brown, A, Clemson Univ., SC, Phelan, M C, and Rogers, R C. 1996. "Two patients with duplication of 17p11.2: The reciprocal of the Smith-Magenis syndrome deletion?". United States. https://doi.org/10.1002/(SICI)1096-8628(19960517)63:2<373::AID-AJMG9>3.0.CO;2-U.
@article{osti_539191,
title = {Two patients with duplication of 17p11.2: The reciprocal of the Smith-Magenis syndrome deletion?},
author = {Brown, A and Clemson Univ., SC and Phelan, M C and Rogers, R C},
abstractNote = {J.M. and H.G. are two unrelated male patients with developmental delay. Cytogenetic analysis detected a duplication of 17p11.2 in both patients. The extent of the duplicated region was determined using single copy DNA probes: cen-D17S58-D17S29-D17S258-D17S71-D17S445-D17S122-tel. Four of the six markers, D17S29, D17S258, D17S71, and D17S445, were duplicated by dosage analysis. Fluorescent in situ hybridization (FISH) analysis of H.G., using cosmids for locus D17S29, confirmed the duplication in 17p11.2. Because the deletion that causes the Smith-Magenis syndrome involves the same region of 17p11.2 as the duplication in these patients, the mechanism may be similar to that proposed for the reciprocal deletion/ duplication event observed in Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) and Charcot-Marie-Tooth Type 1A disease (CMT1A). 30 refs., 3 figs., 1 tab.},
doi = {10.1002/(SICI)1096-8628(19960517)63:2<373::AID-AJMG9>3.0.CO;2-U},
url = {https://www.osti.gov/biblio/539191}, journal = {American Journal of Medical Genetics},
number = 2,
volume = 63,
place = {United States},
year = {Fri May 17 00:00:00 EDT 1996},
month = {Fri May 17 00:00:00 EDT 1996}
}