Use of FISH technique in the diagnosis of chromosomal syndromes

Major chromosome abnormalities are present in 0.65% of all neonates. Fluorescent in situ hybridization [FISH]is useful in diagnosing microdeletion syndromes that would otherwise be difficult to diagnose using standard cytogenetics. In this study, we used FISH analysis in the laboratory diagnosis of 4 patients with Prader-Willi Syndrome [del[15][q11.2q12], 4 patients with Di George syndrome [del[22][q11.2q11.23] and 4 patients with Williams syndrome [del[7][q11.23q11.23]. High-resolution chromosome analysis in all these patients was either normal or inconclusive but all the syndromes were confirmed using FISH. We recommend cytogenetic analysis should always be supplemented with FISH to diagnose all cases suspected of a microdeletion syndrome

Download Full-text

The spectrum of microdeletian syndromes at the hospital of Lithuanian university of health sciences

Genetika ◽

10.2298/gensr1603859c ◽

2016 ◽

Vol 48 (3) ◽

pp. 859-866

Author(s):

Karina Cesaityte ◽

Danielius Serapinas

Keyword(s):

In Situ Hybridization ◽

Fluorescent In Situ Hybridization ◽

Clinical Symptoms ◽

Rare Condition ◽

Health Sciences ◽

Prader Willi Syndrome ◽

Microdeletion Syndrome ◽

Cri Du Chat Syndrome ◽

Microdeletion Syndromes

Microdeletion syndrome is a rare condition which can be diagnosed by fluorescent in situ hybridization (FISH) method. We analyzed microdeletion syndromes cases during ten years period (2005-2015) at The Hospital of Lithuanian University of Health Sciences. We report 2 patients with Prader-Willi syndrome, 2 patients with Smith-Magenis syndrome, 1 patient with Angelman syndrome and 1 patient with Cri du Chat syndrome. All syndromes were confirmed by FISH. These cases contain mainly data about phenotype abnormalities and clinical symptoms.

Download Full-text

Fluorescent in situ hybridization (FISH): A useful diagnostic tool for childhood conjunctival melanoma

European Journal of Ophthalmology ◽

10.1177/11206721211030775 ◽

2021 ◽

pp. 112067212110307

Author(s):

Raquel María Moral ◽

Carlos Monteagudo ◽

Javier Muriel ◽

Lucía Moreno ◽

Ana María Peiró

Keyword(s):

In Situ Hybridization ◽

Fluorescent In Situ Hybridization ◽

Pediatric Population ◽

Diagnostic Technique ◽

Histopathological Diagnosis ◽

Fish Analysis ◽

Conjunctival Melanoma ◽

Adequate Treatment ◽

First Case

Introduction: Conjunctival melanoma is extremely rare in children and has low rates of resolution. Definitive histopathological diagnosis based exclusively on microscopic findings is sometimes difficult. Thus, early diagnosis and adequate treatment are essential to improve clinical outcomes. Clinical case: We present the first case in which the fluorescent in situ hybridization (FISH) diagnostic technique was applied to a 10-year-old boy initially suspected of having amelanotic nevi in his right eye. Based on the 65% of tumor cells with 11q13 (CCND1) copy number gain and 33% with 6p25 (RREB1) gain as measured by the FISH analysis, and on supporting histopathological findings, the diagnosis of conjunctival melanoma could be made. Following a larger re-excision, adjuvant therapy with Mitomycin C (MMC), cryotherapy and an amniotic membrane graft, the patient has remained disease-free during 9 years of long-term follow-up. Case discussion: Every ophthalmologist should remember to consider and not forget the possibility of using FISH analyses during the differential diagnosis of any suspicious conjunctival lesions. Genetic techniques, such as FISH, have led to great advances in the classification of ambiguous lesions. Evidence-based guidelines for diagnosing conjunctival melanoma in the pediatric population are needed to determine the most appropriate strategy for this age group.

Download Full-text

Detection of t(4;14)(p16.3;q32) Chromosomal Translocation in Multiple Myeloma by Double-Color Fluorescent In Situ Hybridization

Blood ◽

10.1182/blood.v94.2.724 ◽

1999 ◽

Vol 94 (2) ◽

pp. 724-732 ◽

Cited By ~ 47

Author(s):

Palma Finelli ◽

Sonia Fabris ◽

Savina Zagano ◽

Luca Baldini ◽

Daniela Intini ◽

...

Keyword(s):

Multiple Myeloma ◽

In Situ Hybridization ◽

Cell Lines ◽

Fluorescent In Situ Hybridization ◽

Chromosomal Translocation ◽

Fish Analysis ◽

Interphase Nuclei ◽

Igh Locus ◽

Normal Controls

Abstract Chromosomal translocations involving the immunoglobulin heavy chain (IGH) locus at chromosome 14q32 represent a common mechanism of oncogene activation in lymphoid malignancies. In multiple myeloma (MM), variable chromosome partners have been identified by conventional cytogenetics, including the 11q13, 8q24, 18q21, and 6p21 loci. We and others have recently reported a novel, karyotypically undetectable chromosomal translocation t(4;14)(p16.3;q32) in MM-derived cell lines, as well as in primary tumors. The 4p16.3 breakpoints are relatively scattered and located less than 100 kb centromeric of the fibroblast growth factor receptor 3 (FGFR3) gene or within the recently identified WHSC1 gene, both of which are apparently deregulated by the translocation. To assess the frequency of the t(4;14)(p16.3;q32) translocation in MM, we performed a double-color fluorescent in situ hybridization (FISH) analysis of interphase nuclei with differently labeled probes specific for the IGH locus (a pool of plasmid clones specific for the IGH constant regions) or 4p16.3 (yeast artificial chromosome (YAC) 764-H1 spanning the region involved in breakpoints). Thirty MM patients, the MM-derived cell lines KMS-11 and OPM2, and six normal controls were examined. The identification of a t(4;14) translocation, evaluated as the presence of a der(14) chromosome, was based on the colocalization of signals specific for the two probes; a cutoff value of 15% (mean + 3 standard deviation [SD]) derived from the interphase FISH of the normal controls (range, 5% to 11%; mean ± SD, 8.16 ± 2.2) was used for the quantification analysis. In interphase FISH, five patients (one in clinical stage I, two in stage II, one in stage III, and a plasma cell leukemia) were found to be positive (≈15%). FISH metaphases with split or colocalized signals were detected in only two of the translocated cases and confirmed the pattern found in the interphase nuclei. Furthermore, in three of the five cases with the translocation, FISH analysis with the IGH joining probe (JH) showed the presence of the reciprocal product of the translocation [der(4) chromosome]. Overall, our study indicates that the t(4;14)(p16.3;q32) chromosomal translocation is a recurrent event in MM tumors and may contribute towards the detection of this lesion and our understanding of its pathogenetic and clinical implications in MM.

Download Full-text

Karyotyping of three Pinaceae species via fluorescent in situ hybridization and computer-aided chromosome analysis

Theoretical and Applied Genetics ◽

10.1007/s001220050143 ◽

1996 ◽

Vol 92 (3-4) ◽

pp. 411-416 ◽

Cited By ~ 5

Author(s):

O. Lubaretz ◽

J. Fuchs ◽

R. Ahne ◽

A. Meister ◽

I. Schubert

Keyword(s):

In Situ Hybridization ◽

Fluorescent In Situ Hybridization ◽

Chromosome Analysis ◽

Computer Aided

Download Full-text

Detection of t(4;14)(p16.3;q32) Chromosomal Translocation in Multiple Myeloma by Double-Color Fluorescent In Situ Hybridization

Blood ◽

10.1182/blood.v94.2.724.414k05_724_732 ◽

1999 ◽

Vol 94 (2) ◽

pp. 724-732 ◽

Cited By ~ 2

Author(s):

Palma Finelli ◽

Sonia Fabris ◽

Savina Zagano ◽

Luca Baldini ◽

Daniela Intini ◽

...

Keyword(s):

Multiple Myeloma ◽

In Situ Hybridization ◽

Cell Lines ◽

Fluorescent In Situ Hybridization ◽

Chromosomal Translocation ◽

Fish Analysis ◽

Interphase Nuclei ◽

Igh Locus ◽

Normal Controls

Chromosomal translocations involving the immunoglobulin heavy chain (IGH) locus at chromosome 14q32 represent a common mechanism of oncogene activation in lymphoid malignancies. In multiple myeloma (MM), variable chromosome partners have been identified by conventional cytogenetics, including the 11q13, 8q24, 18q21, and 6p21 loci. We and others have recently reported a novel, karyotypically undetectable chromosomal translocation t(4;14)(p16.3;q32) in MM-derived cell lines, as well as in primary tumors. The 4p16.3 breakpoints are relatively scattered and located less than 100 kb centromeric of the fibroblast growth factor receptor 3 (FGFR3) gene or within the recently identified WHSC1 gene, both of which are apparently deregulated by the translocation. To assess the frequency of the t(4;14)(p16.3;q32) translocation in MM, we performed a double-color fluorescent in situ hybridization (FISH) analysis of interphase nuclei with differently labeled probes specific for the IGH locus (a pool of plasmid clones specific for the IGH constant regions) or 4p16.3 (yeast artificial chromosome (YAC) 764-H1 spanning the region involved in breakpoints). Thirty MM patients, the MM-derived cell lines KMS-11 and OPM2, and six normal controls were examined. The identification of a t(4;14) translocation, evaluated as the presence of a der(14) chromosome, was based on the colocalization of signals specific for the two probes; a cutoff value of 15% (mean + 3 standard deviation [SD]) derived from the interphase FISH of the normal controls (range, 5% to 11%; mean ± SD, 8.16 ± 2.2) was used for the quantification analysis. In interphase FISH, five patients (one in clinical stage I, two in stage II, one in stage III, and a plasma cell leukemia) were found to be positive (≈15%). FISH metaphases with split or colocalized signals were detected in only two of the translocated cases and confirmed the pattern found in the interphase nuclei. Furthermore, in three of the five cases with the translocation, FISH analysis with the IGH joining probe (JH) showed the presence of the reciprocal product of the translocation [der(4) chromosome]. Overall, our study indicates that the t(4;14)(p16.3;q32) chromosomal translocation is a recurrent event in MM tumors and may contribute towards the detection of this lesion and our understanding of its pathogenetic and clinical implications in MM.

Download Full-text