A New Small Supernumerary Marker Chromosome, Generating Mosaic Pure Trisomy 16q11.1-q12.1 in a Healthy Man

Overview

Journal Mol Cytogenet

Publisher Biomed Central

Specialty Biochemistry

Date 2008 May 13

PMID 18471313

Citations 3

Authors

Laura Rodriguez

Tomas Liehr

Maria Luisa Martinez-Fernandez

Ana Lara

Antonio Torres

Maria Luisa Martinez-Frias

Affiliations

Soon will be listed here.

Abstract

Here we report on a healthy and fertile 30 years old man, who was carrier of a small supernumerary marker chromosome (sSMC). The application of molecular techniques such as fluorescence in situ hybridisation (FISH), microdissection and reverse painting, helped to characterize the sSMC which resulted to be derived from chromosome 16. In fact, the presence of euchromatin material from the long arm (16q) in the sSMC was demonstrated, and the karyotype can be written as mos 47, XY,+min(16)(:p11.1->q12.1:)[20]/46, XY [10].

Citing Articles

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Hamid A, Weise A, Voigt M, Bucksch M, Kosyakova N, Liehr T Balkan J Med Genet. 2013; 15(2):15-22.

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Molecular cytogenetics and cytogenomics of brain diseases.

Iourov I, Vorsanova S, Yurov Y Curr Genomics. 2009; 9(7):452-65.

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Chromosomal mosaicism goes global.

Iourov I, Vorsanova S, Yurov Y Mol Cytogenet. 2008; 1:26.

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