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.
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Inheritance of imbalances in recurrent chromosomal translocation t(11;22): clarification by PGT-SR and sperm-FISH analysis.
Reprod Biomed Online
July 2019
Cytogenetic PGD Department, Arnaud De Villeneuve Hospital, Montpellier, France; ART-PGD Department, Arnaud De Villeneuve Hospital, Montpellier, France; INSERM U487, Saint Eloi Hospital, Montpellier, France.
Research Question: To analyse why unbalanced viable offspring are derived mainly from the 3:1 segregation mode in t(11;22)(q23;q11.2) reciprocal translocation.
Design: Retrospective analysis of 24 pre-implantation genetic testing for chromosomal structural re-arrangements (PGT-SR) cycles was performed on seven male and five female carriers of t(11;22) translocation.
Diagnosis of chromosomal anomalies due to adjacent-1 malsegregation resulting from translocation heterozygotes.
J Formos Med Assoc
December 2004
Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Taipei, Taiwan.
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.
View Article and Find Full Text PDFDuplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation.
Hum Genet
September 2002
Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, SP2 8BJ, UK.
Paternal duplications of distal 11p result in Beckwith Wiedemann syndrome (BWS), whereas maternal duplications have not, to our knowledge, been reported previously in the literature. We present three unrelated patients with maternal duplications of distal 11p. Patient 1 is a 31-year-old female with a de novo inverted duplication of distal 11p, i.
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