scholarly journals Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports

2012 ◽  
Vol 2012 ◽  
pp. 1-5 ◽  
Author(s):  
F. Sheth ◽  
O. R. Akinde ◽  
C. Datar ◽  
O. V. Adeteye ◽  
J. Sheth
Keyword(s):  
Cytogenetic Study ◽  
Case Reports ◽  
Normal Karyotype ◽  
Comparative Genomic ◽  
Molecular Cytogenetic ◽  
Contiguous Gene ◽  
Multiple Malformation ◽  
Molecular Cytogenetic Techniques

The Wolf-Hirschhorn syndrome (WHS) is a multiple malformation and contiguous gene syndrome resulting from the deletion encompassing a 4p16.3 region. A microscopically visible terminal deletion on chromosome 4p (4p16→pter) was detected in Case 1 with full blown features of WHS. The second case which had an interstitial microdeletion encompassingWHSC 1andWHSC 2genes at 4p16.3 presented with less striking clinical features of WHS and had an apparently “normal” karyotype. The severity of the clinical presentation was as a result of haploinsufficiency and interaction with surrounding genes as well as mutations in modifier genes located outside the WHSCR regions. The study emphasized that an individual with a strong clinical suspicion of chromosomal abnormality and a normal conventional cytogenetic study should be further investigated using molecular cytogenetic techniques such as fluorescencein situhybridization (FISH) or array-comparative genomic hybridization (a-CGH).

scholarly journals Characterization of Spinach Chromosomes by Condensation Patterns and Physical Mapping of 5S and 45S rDNAs by FISH

2000 ◽  
Vol 125 (1) ◽  
pp. 59-62 ◽  
Author(s):  
Mikako Ito ◽  
Nobuko Ohmido ◽  
Yukio Akiyama ◽  
Kiichi Fukui ◽  
Takato Koba
Keyword(s):  
Spinacia Oleracea ◽  
5S Rdna ◽  
Proximal Region ◽  
Chromosome 2 ◽  
Chromosome 5 ◽  
Molecular Cytogenetic ◽  
Nucleolar Organizing Region ◽  
Molecular Cytogenetic Techniques

Molecular cytogenetic techniques and computer-aided karyotyping were applied to characterize the chromosomes of spinach (Spinacia oleracea L., 2n = 12). Chromosome lengths, arm ratios, and degrees of condensation at prometaphase chromosomes were analyzed using a software Chromosome Image Analyzing System III (CHIAS III). DNA probes prepared from rice (Oryza sativa L.) rDNA were applied to the spinach chromosomes by the fluorescence in situ hybridization (FISH) method. Three 45S rDNA loci were detected at the nucleolar organizing region (NOR) of Chromosome 5, and at terminal positions of short arms of Chromosomes 2 and 6. The loci of 5S rDNA were also found at three locations. One was at the subtelomeric region of the long arm of Chromosome 2 and the other two were at the proximal region of the long arm of Chromosome 5. All spinach chromosomes were identified which will provide valuable information for mapping genes on these chromosomes.

scholarly journals Jacobsen syndrome and neonatal bleeding: report on two unrelated patients

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Gregorio Serra ◽  
Luigi Memo ◽  
Vincenzo Antona ◽  
Giovanni Corsello ◽  
Valentina Favero ◽  
...  
Keyword(s):  
Developmental Delay ◽  
De Novo ◽  
Comparative Genomic ◽  
Fish Analysis ◽  
Variable Degree ◽  
Jacobsen Syndrome ◽  
Contiguous Gene ◽  
Clinical Consequences ◽  
11Q Deletion

Abstract Introduction In 1973, Petrea Jacobsen described the first patient showing dysmorphic features, developmental delay and congenital heart disease (atrial and ventricular septal defect) associated to a 11q deletion, inherited from the father. Since then, more than 200 patients have been reported, and the chromosomal critical region responsible for this contiguous gene disorder has been identified. Patients’ presentation We report on two unrelated newborns observed in Italy affected by Jacobsen syndrome (JBS, also known as 11q23 deletion). Both patients presented prenatal and postnatal bleeding, growth and developmental delay, craniofacial dysmorphisms, multiple congenital anomalies, and pancytopenia of variable degree. Array comparative genomic hybridization (aCGH) identified a terminal deletion at 11q24.1-q25 of 12.5 Mb and 11 Mb, in Patient 1 and 2, respectively. Fluorescent in situ hybridization (FISH) analysis of the parents documented a de novo origin of the deletion for Patient 1; parents of Patient 2 refused further genetic investigations. Conclusions Present newborns show the full phenotype of JBS including thrombocytopenia, according to their wide 11q deletion size. Bleeding was particularly severe in one of them, leading to a cerebral hemorrhage. Our report highlights the relevance of early diagnosis, genetic counselling and careful management and follow-up of JBS patients, which may avoid severe clinical consequences and lower the mortality risk. It may provide further insights and a better characterization of JBS, suggesting new elements of the genotype-phenotype correlations.

Molecular Cytogenetic Characterization of the DiGeorge Syndrome Region Using Fluorescence in Situ Hybridization

Genomics ◽  
1993 ◽  
Vol 17 (2) ◽  
pp. 403-407 ◽  
Author(s):  
Elizabeth A. Lindsay ◽  
Stephanie Halford ◽  
Roy Wadey ◽  
Peter J. Scambler ◽  
Antonio Baldini
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Digeorge Syndrome ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization

Characterization of the A673 cell line (Ewing tumor) by molecular cytogenetic techniques

2003 ◽  
Vol 141 (2) ◽  
pp. 138-142 ◽  
Author(s):  
A Martı́nez-Ramı́rez ◽  
S Rodrı́guez-Perales ◽  
B Meléndez ◽  
B Martı́nez-Delgado ◽  
M Urioste ◽  
...  
Keyword(s):  
Cell Line ◽  
Molecular Cytogenetic ◽  
Molecular Cytogenetic Techniques ◽  
Ewing Tumor
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