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Trisomy 20 mosaicism confirmed in a phenotypically normal liveborn
Author(s) -
Park Jonathan P.,
Moeschler John B.,
Rawnsley Eileen,
Berg Susan Z.,
WursterHill Doris H.
Publication year - 1989
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970090707
Subject(s) - trisomy , biology , aneuploidy , prenatal diagnosis , amniotic fluid , karyotype , foreskin , fetus , microbiology and biotechnology , amniocentesis , andrology , pathology , genetics , pregnancy , chromosome , medicine , cell culture , gene
Prenatal diagnosis of trisomy 20 mosaicism in this case was based on cytogenetic analysis of cultured amniotic fluid cells (23/52 cells were trisomy 20 representing cells from each of four primary cultures). The pregnancy continued to term and the mosaicism was confirmed in the phenotypically normal male neonate by analysis of cultured foreskin fibroblasts (7/49 cells + 20) and placental cells 20/20 cells + 20) whereas the peripheral lymphocytes were cytogenetically normal (20/20 cells were 46,XY). This represents the first confirmation of trisomy 20 mosaicism in a phenotypically normal full‐term neonate.