The origin of cytologically unidentifiable chromosome abnormalities: six cases ascertained by targeted chromosome-band painting

• Published in: Human genetics Vol. 92; no. 1; p. 1
• Main Authors: Ohta, T, Tohma, T, Soejima, H, Fukushima, Y, Nagai, T, Yoshiura, K, Jinno, Y, Niikawa, N
• Format: Journal Article
• Language: English
• Published: Germany 01.08.1993
• Subjects: Base Sequence; Child; Chromosome Aberrations - diagnosis; Chromosome Aberrations - genetics; Chromosome Banding - methods; Chromosome Disorders; DNA; Female; Humans; In Situ Hybridization, Fluorescence; Karyotyping; Male; Molecular Sequence Data

De novo chromosome structural abnormalities cannot always be diagnosed by the use of standard cytogenetic techniques. We applied a previously developed chromosome-band-specific painting method to the diagnosis of such rearrangements. The diagnostic procedures consisted of microdissection of an aberr...