A complex chromosomal rearrangement detected prenatally and studied by fluorescence in situ hybridization

• Published in: Human genetics Vol. 92; no. 2; p. 117
• Main Authors: Batista, D A, Tuck-Muller, C M, Martinez, J E, Kearns, W G, Pearson, P L, Stetten, G
• Format: Journal Article
• Language: English
• Published: Germany 01.09.1993
• Subjects: Adult; Amniocentesis; Chromosome Aberrations; Chromosome Banding; Chromosome Inversion; Chromosomes, Human, Pair 1; Chromosomes, Human, Pair 3; Chromosomes, Human, Pair 9; Female; Fetal Diseases - diagnosis; Fetal Diseases - genetics; Fibroblasts; Humans; In Situ Hybridization, Fluorescence; Karyotyping; Pregnancy; Prenatal Diagnosis - methods; Telomere; Translocation, Genetic

We report of case of a complex chromosomal rearrangement detected prenatally and studied with traditional banding methods and fluorescence in situ hybridization. The combination of these techniques showed that four chromosomes were involved in the translocation. Nine breakpoints were proposed to exp...