title: Familial cryptic translocation (2;17) ascertained through recurrent spontaneous abortions.
abstract: We report a young woman who presented with a reproductive history of three recurrent spontaneous abortions (RSA) and two neonatal deaths. Comparative genomic hybridization (CGH) was used to determine the chromosomal composition of the patient's last miscarriage. It showed the presence of monosomy for the distal end of chromosome 2 long arm (segment 2q37.2 to qter) and trisomy for the distal end of chromosome 17 long arm (segment 17q25 to qter). The mother was found to be a carrier for a cryptic translocation between chromosomes 2 and 17 long arms by fluorescence in situ hybridization using a subtelomeric probe for 17q. Retrospective CGH analysis on one baby who died neonatally showed that he had inherited the maternal translocation in the same unbalanced state as the last pregnancy loss. His detailed postmortem examination is reported.
authors: Department of Pathology and Laboratory Medicine, University of British Columbia, Canada. hbruyere@vanhosp.bc.ca
authors: Helene
authors: H
authors: Bruyere
authors: Evica
authors: E
authors: Rajcan-Separovic
authors: J
authors: J
authors: Doyle
authors: Tapio
authors: T
authors: Pantzar
authors: Sylvie
authors: S
authors: Langlois
mesh_terms: D000026:Abortion, Habitual / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D000328:Adult; D002871:Chromosome Banding; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D005313:Fetal Death; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D009693:Nucleic Acid Hybridization / Q000379:methods; D014178:Translocation, Genetic