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Complex karyotypic mosaicism as a result of non‐disjunction and subsequent centromere fission
Author(s) -
Prabhakar Gayathri,
Schwartz Stuart,
Waters Elizabeth,
Punzalan Cecile,
Cohen Maimon M.
Publication year - 1994
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.1970140714
Subject(s) - karyotype , centromere , biology , chorionic villi , cytology , fetus , chromosome , placenta , andrology , pathology , genetics , microbiology and biotechnology , pregnancy , medicine , gene
Karyotypic discrepancy among four different cell types is described in tissues derived from a pregnancy terminated because of chromosomal anomalies. Chorionic villus cells demonstrated 46,XX (direct preparation) and 46, XX/47,XX,+marl (cultured cells) karyotypes, while fetal skin fibroblasts had a karyotype of 47,XX,+ 18 and the placenta showed a triple mosaicism of 47,XX, + 18/47,XX,+mar1/48,XX,+ 18,+mar2. The origin of this complex chromosomal distribution and its significance are discussed in comparison with findings in similar cases.