Diagnosis of chromosomal anomalies due to adjacent-1 malsegregation resulting from translocation heterozygotes.
Patients who are carriers of reciprocal translocations may have pregnancies with unbalanced karyotypes that result in miscarriage or congenital anomalies of offspring. We report 3 cases of unbalanced karyotype resulting from adjacent-1 malsegregation in the conceptuses of heterozygous carriers of balanced translocations. The combined use of genetic markers in ultrasound, chromosomal analysis and fluorescence in situ hybridization to make accurate prenatal diagnosis is described.
Liu
Ching-Ming
CM
Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Taipei, Taiwan.
Chen
Chun-Kai
CK
Chang
Shuenn-Dyh
SD
D000328:Adult; D002869:Chromosome Aberrations; D020090:Chromosome Segregation; D005260:Female; D006579:Heterozygote; D006801:Humans; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic