Complex karyotypic mosaicism as a result of non-disjunction and subsequent centromere fission.
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,+mar1 (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.
Department of Obstetrics/Gynecology and Pediatrics, University of Maryland at Baltimore.
G
G
Prabhakar
S
S
Schwartz
E
E
Waters
C
C
Punzalan
M M
MM
Cohen
D000028:Abortion, Induced; D000328:Adult; D015193:Chorionic Villi Sampling; D002869:Chromosome Aberrations; D002887:Chromosomes, Human, Pair 18; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008423:Maternal Age; D009030:Mosaicism; D011247:Pregnancy; D018566:Pregnancy, High-Risk; D011296:Prenatal Diagnosis