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A female with monosomy 18 mosaicism: a previously undescribed chromosome abnormality
Author(s) -
Khalifa Mohamed M.,
Yamashiro Hirotaka,
Duncan Alessandra M. V.,
Hefferon Michael,
Martin Aryn E.
Publication year - 1996
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1996.tb03798.x
Subject(s) - monosomy , abnormality , genetics , chromosomal abnormality , biology , karyotype , chromosome abnormality , ring chromosome , aneuploidy , chromosome 7 (human) , chromosome , medicine , gene , psychiatry
We report on a patient with monosomy 18 mosaicism, a previously undescribed chromosome abnormality. The phenotype is reminiscent of chromosome 18 ring mosaicism. The reason that the patient survived may be attributed to low level mosaicism for the monosomy.