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FISH analysis of a complex chromosome rearrangement involving nine breakpoints on chromosomes 6, 12, 14 and 16

✍ Scribed by Mary C. Phelan; Will Blackburn; R. Curtis Rogers; Eric C. Crawford; Nelson R. Cooley; Evelin Schrock; Yi Ning; Thomas Ried

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 240 KB
Volume: 18
Category: Article
ISSN: 0197-3851
DOI: 10.1002/(sici)1097-0223(199811)18:11<1174::aid-pd411>3.0.co;2-h

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✦ Synopsis

We report the prenatal diagnosis of an apparently balanced de novo complex chromosome rearrangement (CCR) which involved nine breakpoints on four different chromosomes. Fluorescence in situ hybridization (FISH) and spectral karyotyping (SKY) were performed as an adjunct to G-banding for characterization of the abnormal chromosomes. The 22-week female fetus showed minor dysmorphic features including dolichocephaly, broad fingernails, tibial bowing, clubfoot, thoracolumbar scoliosis and hypoplastic toenails. Autopsy revealed gall-bladder hypoplasia and an atrial septal defect. Chromosome analysis of fetal tissue confirmed the presence of the complex rearrangement.

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Analysis of a de novo complex chromosome

Analysis of a de novo complex chromosome rearrangement involving chromosomes 4, 11, 12 and 13 and eight breakpoints by conventional cytogenetic, fluorescence in situ hybridization and spectral karyotyping

✍ B. Peschka; J. Leygraaf; D. Hansmann; M. Hansmann; E. Schröck; T. Ried; H. Engel 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 313 KB 👁 2 views

A complex chromosome rearrangement (CCR) with eight breakpoints resulting in four derivative chromosomes (4, 11, 12 and 13) was detected prenatally in a male fetus of a twin pregnancy. The karyotype of the female second fetus was normal. The apparently balanced de novo CCR was identified by classica