A high resolution in situ hybridization technique for the direct visualization of labeled G-banded early metaphase and prophase chromosomes

Chandler, Mary E.; Yunis, Jörge J.

doi:10.1159/000130970

Cited by 102 publications

(35 citation statements)

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“…Karyotyping of amniotic fluid was performed at 18 weeks of pregnancy according to standard techniques (Chandler and Yunis, 1978). Results are described in accordance with the 2013 International System for Human Cytogenetic Nomenclature (ISCN).…”

Section: Karyotypingmentioning

confidence: 99%

Identification of novel DYNC2H1 mutations associated with short rib-polydactyly syndrome type III using next-generation panel sequencing

Chen¹,

Shi²,

Zou³

et al. 2016

Genet. Mol. Res.

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ABSTRACT. Short rib-polydactyly syndrome type III (SRPS3) is a perinatal lethal skeletal disorder with polydactyly and multisystem organ abnormalities. While ultrasound of the fetus can detect skeletal abnormalities characteristic of SRPS3, the syndrome is often difficult to diagnose before birth. As SRPS3 is an autosomal recessive disorder, identification of the gene mutations involved could lead to the development of prenatal genetic testing as an accurate method of diagnosis. In this study, we describe genetic screening approaches to identify potential abnormalities associated with SRPS3. Karyotype analysis, array comparative genomic hybridization (aCGH), and nextgeneration panel sequencing were each performed on a fetus showing signs of the disorder, as well as on the mother and father. Karyotype and aCGH results revealed no abnormalities. However, next-generation panel sequencing identified novel mutations in the DYNC2H1 gene. The fetus was compound heterozygous for both a missense mutation c.8313A > T and a frameshift mutation c.10711_10714delTTTA in the DYNC2H1 gene, which were inherited from the mother and father, respectively. These variants were further confirmed using Sanger sequencing and have not been previously reported. Our study indicates the utility of using next-generation panel sequencing in screening for novel disease-associated mutations.

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Section: Karyotypingmentioning

confidence: 99%

Identification of novel DYNC2H1 mutations associated with short rib-polydactyly syndrome type III using next-generation panel sequencing

Chen¹,

Shi²,

Zou³

et al. 2016

Genet. Mol. Res.

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show abstract

“…Slides were coated by NTB2 emulsion (Kodak, USA) and exposed in darkness at 4°C for 15-21 days. After development and fixation, chromosomes were stained with Wright's solution (Chandler & Yunis, 1978).…”

Section: Cytogeneticsmentioning

confidence: 99%

Association of cytogenetic abnormalities in a neuroblastoma and fragile sites expression

et al. 1988

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A 15 month old boy with a stage IV right suprarenal gland neuroblastoma showed a number of raised biochemical parameters, whilst catecholamines and skeletal survey were normal. Treatment with peptichemio failed to give a clinical response. Histological evidence of neuroblastoma infiltration in the bone marrow aspirate was absent. Immunofluorescence on sedimented cells was negative using antibody UJ223.8, PI153/3 and H11; only UJ308 and to a lesser extent UJ13A gave positive results. After 21 days, however, the same cells in culture showed highly differentiated dendritic processes. Thirty-seven percent metaphases from bone marrow aspirate showed the following karyotype 45XY, del (1) (p32), and two markers. Mar1 = der (2) t (2; 2) (2qter----2q14::2p24----2qter). Mar2 = der (15) t (15; 2) (15qter----15p11::2p11----2pter). Treatment with methotrexate reduced the aberrant mitoses rate to 2%. N-myc in situ hybridisation showed significant signal on both markers confirming the cytogenetic interpretation. Peripheral blood lymphocytes at 72 h showed a higher level of breaks per cell than control. After treatment with aphidicolin (APC) or methotrexate (MTX) for the last 24 h, to induce fragile sites, the incidence of breaks per cells was increased. Moreover 11.4% of APC-induced breaks were in 1p31-32 (mean of normal controls = 2.3%). The mother presented an increased sensitivity to the inducibility of fragile sites, while the father's lymphocytes showed values within the control range. The genetic changes produced by the abnormalities on chromosomes 1 and 2 might be related to tumour progression. Furthermore this is the first description of correlation between a high frequency of fragile site 1p31-32 induced by APC in the patient's lymphocytes and deletion of 1p32 in tumour cells. The interpretation of these findings and of other similar correlations needs further study. Images Figure 1 Figure 2

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“…More recent staining techniques permit chromosome identification following in situ hybridization (Harper, Ullrich and Saunders, 1981), thus shortening the procedure. Prometaphase banding -the technique whereby extremely elongated chromosome spreads can be obtainedused in conjunction with in situ hybridization, permits very accurate probe localization (Chandler and Yunis, 1978 DNA sequences are localized, can be further improved by using metaphase spreads containing translocations with defined breakpoints (Fennel et al, 1979;Davies et al, 1984). The technique of in situ hybridization has achieved a high degree of resolution; however, it is not faultless (Bishop and Jones, 1972;Goode, Ledbetter and Daiger, 1984).…”

Section: Myotonic Dystrophy and Gene Mapping 329mentioning

confidence: 99%

Myotonic Dystrophy and Gene Mapping on Human Chromosome 19

Brook

Shaw

Meredith

1985

Biotechnology and Genetic Engineering Reviews

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A high resolution in situ hybridization technique for the direct visualization of labeled G-banded early metaphase and prophase chromosomes

Cited by 102 publications

References 1 publication

Identification of novel DYNC2H1 mutations associated with short rib-polydactyly syndrome type III using next-generation panel sequencing

Identification of novel DYNC2H1 mutations associated with short rib-polydactyly syndrome type III using next-generation panel sequencing

Association of cytogenetic abnormalities in a neuroblastoma and fragile sites expression

Myotonic Dystrophy and Gene Mapping on Human Chromosome 19

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