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Patient with three euchromatic supernumerary marker chromosomes derived from chromosomes 1, 12, and 18: Characterization and evaluation of the aberrations
Author(s) -
Schwanitz Gesa,
Hagh Javad Karim Zad,
Rad Isa Abdi,
Omrani Mir Davood,
Gamerdinger Ulrike,
Schubert Regine,
Elbracht Miriam,
Eggermann Thomas,
Eggermann Katja,
Spengler Sabrina,
Schüler Herdit,
Gogiel Magdalena
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36319
Subject(s) - euchromatin , supernumerary , small supernumerary marker chromosome , genetics , biology , marker chromosome , heterochromatin , karyotype , chromosome , fluorescence in situ hybridization , centromere , phenotype , gene , anatomy
The genetic relevance of small supernumerary marker chromosomes (sSMCs) depends on their content of euchromatin. In case of mosaicism, the phenotype of the carrier furthermore is influenced by the distribution of the marker in the body. In the majority of reported cases no correlation of the degree of mosaicism in the tissue(s) analyzed and the phenotype could be detected. In particular, non‐acrocentric derived sSMCs show a strong tendency to appear in mosaic state irrespective of the clinical picture. We present a patient with cognitive disability and mild craniofacial dysmorphisms with mosaicism of three different autosomal marker chromosomes. The extra chromosomes were analyzed by a combination of SNP array and a variety of fluorescence in situ hybridization (FISH) probes. All three markers were identified as ring chromosomes containing different amounts of euchromatic material derived from chromosome 1 (1p12 → q21), 12 (12p13.1 → q13.11) and 18 (18p11.21 → q11.2). The size and the frequency of the sSMCs were strikingly different, besides, we observed an unequal combination of the three derivates. © 2013 Wiley Periodicals, Inc.