Molecular refinement of Karyotype: Beyond the cytogenetic band

Sirko-Osadsa, D. Alexa; Cassidy, Suzanne B.; Depinet, Theresa W.; Robin, Nathaniel H.; Limwonge, Chanin; Schwartz, Stuart

doi:10.1097/00125817-199909000-00003

Cited by 1 publication

(1 citation statement)

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“…However, the development of fluorescence in situ hybridization (FISH) with different probes in combination with the data available from the Human Genome Project has permitted greater understanding of these cases and led to an ability of delineate such rearrangements [Astbury et al, 2004]. In addition, these techniques permit the attribution of chromosomal origin and also provide better genotype-phenotype correlations [Sirko-Osadsa et al, 1999].…”

Section: Introductionmentioning

confidence: 99%

Breakpoint mapping in a case of mosaicism with partial monosomy 9p23 → pter and partial trisomy 1q41 → qter suggests neo‐telomere formation in stabilizing the deleted chromosome

Kulikowski

Christ

Nogueira

et al. 2005

American J of Med Genetics Pt A

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We report on a clinical and molecular cytogenetic study of a patient who presents a complex chromosomal rearrangement with two different cell lines. Using high-resolution GTG banding and fluorescence in situ hybridization (FISH) with several probes, including bacterial artificial chromosomes (BACs), the karyotype was defined as 46,XX,del(9)(p23)[54]/46,XX,der(9)t(1;9)(q41;p23)[46], indicating the presence of monosomy 9p23 in all cells and trisomy 1q41 in approximately 50% of the cells. The patient studied presents most of the manifestations of the 9p deletion and 1q duplication syndromes. The breakpoint was mapped at 9p23 with a loss of approximately 13.9-Mb of DNA. The duplicated segment consists of approximately 35 Mb from 1q41-qter region. We also suggest that a mechanism for telomere capture and interstitial telomeric sequences (ITs) is involved in a neo-telomere formation in one of the cell lines. This study highlights the importance of combining high-resolution chromosome and FISH with BACs in order to make genotype-phenotype correlations and to understand the mechanisms involved chromosomal aberrations.

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Section: Introductionmentioning

confidence: 99%