Identification of a marker chromosome as inv dup(15) by molecular analysis
- 1 September 1991
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 40 (3) , 233-236
- https://doi.org/10.1111/j.1399-0004.1991.tb03083.x
Abstract
The origin of an extra marker chromosome in a patient with mental retardation and intractable epilepsy was ascertained by DNA analysis. Gene dose and restriction fragment length polymorphism (RFLP) studies of D15S9 proved that the patient was tetrasomic for the gene and that the extra chromosome was of maternal origin. On the basis of the molecular findings, further detailed GTG-banded chromosome analysis interpreted the marker chromosome as inv dup(15)(pter----q14::q14----pter). The clinical manifestations of the patient are consistent with those of the patients previously described.Keywords
This publication has 7 references indexed in Scilit:
- Regional mapping of the parathyroid hormone gene (PTH) by cytogenetic and molecular studiesCytogenetic and Genome Research, 1991
- Report of the committee on the genetic constitution of chromosomes 14 and 15Cytogenetic and Genome Research, 1989
- Origin of the extra chromosome in trisomy 18Human Genetics, 1988
- A simple salting out procedure for extracting DNA from human nucleated cellsNucleic Acids Research, 1988
- Localization of the human prealbumin gene to 18p11.1-q12.3 by gene dose effect study of Southern blot hybridizationJournal of Human Genetics, 1986
- Forty four probands with an additional ?marker? chromosomeHuman Genetics, 1985
- Cytogenetic and clinical studies in five cases of inv dup(15)Human Genetics, 1979