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Trisomy 18 and 18p‐ features in a case of isochromosome 18q [46,XY,i(18q)]: prenatal diagnosis and autopsy report
Author(s) -
WursterHill Doris H.,
MarinPadilla J. Miguel,
Moeschler John B.,
Park Jonathan P.,
McDermet Melanie
Publication year - 1991
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.1399-0004.1991.tb03001.x
Subject(s) - isochromosome , trisomy , autopsy , prenatal diagnosis , medicine , biology , fetus , genetics , pregnancy , chromosome , karyotype , gene
This paper reports the prenatal diagnosis and autopsy findings of a case of true isochromosome 18q [46,XY,i(18q)] with severe cephalic malformations. Comparison is made with other cases of i(18q).