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Partial monosomy 10q with partial trisomy 11q due to paternal balanced translocation
Author(s) -
Maruyama K,
Koizumi T,
Ikeda H
Publication year - 2001
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1046/j.1440-1754.2001.00587.x
Subject(s) - partial trisomy , monosomy , medicine , imperforate anus , chromosomal translocation , hypoplasia , trisomy , genetics , anatomy , chromosome , karyotype , biology , gene
: A male neonate with partial monosomy 10q and partial trisomy 11q, due to paternal balanced translocation, and who had cerebellar and olfactory lobe hypoplasia, cardiovascular defects, duodenal atresia and imperforate anus, is presented. To the best of our knowledge, this is the first report on this combination of chromosomal abnormalities.