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FISH Variants with D15Z1.

S. H. Shim, A. Pan, X. L. Huang

Journal of the Association of Genetic Technologists

|June 24, 2004

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This study investigated chromosome 15 abnormalities in 109 patients, finding D15Z1 cross-hybridization on chromosome 14 in 11.9% of cases, potentially indicating uniparental disomy. False negatives occurred in less than 1% of cases.

Area of Science:

Genetics
Molecular Biology
Clinical Cytogenetics

Background:

Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are genetic disorders associated with chromosome 15q11.2.
Accurate diagnosis relies on identifying structural chromosome abnormalities and gene expression patterns.

Purpose of the Study:

To evaluate the diagnostic utility of D15Z1 cross-hybridization in clinical cases referred for AS, PWS, autism, or other chromosome 15-related abnormalities.
To assess the frequency and implications of D15Z1 signals on chromosome 14 in these patient cohorts.

Main Methods:

Analysis of 109 clinical cases using D15Z1 in combination with D15S10, D15S11, or SNRPN probes.
Karyotyping and FISH (fluorescence in situ hybridization) to detect extra signals, absence of signals, or structural rearrangements involving chromosome 15.

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Main Results:

Nine cases with normal karyotypes showed D15Z1 cross-hybridization on chromosome 14 (11.9% overall frequency).
Three of ten cases with supernumerary markers exhibited D15Z1 signals on chromosome 14.
A false-negative result rate of <1% was observed, with a theoretical 1 in 300 chance of both chromosome 14 homologs being D15Z1 positive.

Conclusions:

D15Z1 cross-hybridization on chromosome 14 is a significant finding in patients with chromosome 15 abnormalities, including AS and PWS.
The presence of D15Z1 signals on chromosome 14 warrants further investigation for uniparental disomy, especially in cases with abnormal phenotypes.
The study refines understanding of diagnostic challenges and potential pitfalls in cytogenetic analysis of chromosome 15.