scholarly journals Molecular cytogenetic analysis of complex chromosomal rearrangements in patients with mental retardation and congenital malformations: Delineation of 7q21.11 breakpoints

2003 ◽  
Vol 124A (1) ◽  
pp. 10-18 ◽  
Author(s):  
Stefan Vermeulen ◽  
Bj�rn Menten ◽  
Nadine Van Roy ◽  
Heidi Van Limbergen ◽  
Anne De Paepe ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Cytogenetic Analysis ◽  
Congenital Malformations ◽  
Chromosomal Rearrangements ◽  
Molecular Cytogenetic ◽  
Complex Chromosomal Rearrangements

scholarly journals Trisomy and tetrasomy 15q11-q13 diagnosed by molecular cytogenetic analysis in two patients with mental retardation

2015 ◽  
Vol 01 (01) ◽  
pp. 063-068
Author(s):  
Abir Gmidène ◽  
Najla Soyah ◽  
Hannachi Hanene ◽  
Soumaya Mougou ◽  
Hatem Elghezal ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Cytogenetic Analysis ◽  
Molecular Cytogenetic

scholarly journals Cytogenetic analysis of children with suspected genetic disorder

1970 ◽  
Vol 7 (1) ◽  
pp. 40-43
Author(s):  
U Shrestha ◽  
S Bhattacharya ◽  
NK Bhatta ◽  
CB Jha
Keyword(s):  
Mental Retardation ◽  
Short Stature ◽  
Cytogenetic Analysis ◽  
Congenital Malformations ◽  
Genetic Disorder ◽  
Ambiguous Genitalia ◽  
Health Sciences ◽  
Dysmorphic Feature ◽  
Banding Technique ◽  
Chromosomal Disorders

Objectives: To analyze chromosomes in children with suspected genetic disorder and to categorize the chromosomal basis of genetic disorder Materials and methods: Thirty children were selected from the patients attending genetic clinic, Department of Pediatrics, B.P. Koirala Institute of Health Sciences presenting with dysmorphic feature, mental retardation, short stature, congenital malformations and ambiguous genitalia with age between 0-15 years. Cytogenetic analysis was carried using standard peripheral blood lymphocyte culture method and G-banding technique in Cytogenetic laboratory of Department of Anatomy, B.P. Koirala Institute of Health Sciences. Results: Chromosomal disorders were identified in 33.34% (10) of children. The most common chromosomal abnormality was Down syndrome (26.67%) followed by Turner syndrome (6.67%). Conclusion: The cytogenetic analysis of children with suspected chromosomal aberration is important to uncover the contribution of chromosomal disorder in genesis of dysmorphisms, mental retardation, short stature, sexual ambiguity and congenital malformation in children and prevent further potentially unpleasant investigation being undertaken. Key words: Chromosome, suspected genetic disorder, dysmorphic feature, mental retardation, short stature, congenital malformations, ambiguous genitalia doi: 10.3126/kumj.v7i1.1763       Kathmandu University Medical Journal (2009), Vol. 7, No. 1, Issue 25, 40-43

No evidence for ITSN1 loss in a patient with mental retardation and complex chromosomal rearrangements of 21q21–21q22

2013 ◽  
Vol 37 (6) ◽  
pp. 721-723 ◽  
Author(s):  
Tim Ripperger ◽  
Marcel Tauscher ◽  
Kathrin Thomay ◽  
Gudrun Göhring ◽  
Doris Kraemer ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Chromosomal Rearrangements ◽  
Complex Chromosomal Rearrangements

Molecular Cytogenetic Analysis of Cucumis Wild Species Distributed in Southern Africa: Physical Mapping of 5S and 45S rDNA with DAPI

2015 ◽  
Vol 146 (1) ◽  
pp. 80-87 ◽  
Author(s):  
Kouhei Yagi ◽  
Magdalena Pawełkowicz ◽  
Paweł Osipowski ◽  
Ewa Siedlecka ◽  
Zbigniew Przybecki ◽  
...  
Keyword(s):  
Cytogenetic Analysis ◽  
Chromosomal Rearrangements ◽  
Evolutionary Relationship ◽  
Chromosomal Evolution ◽  
Rdna Site ◽  
45S Rdna ◽  
Polyploid Evolution ◽  
Molecular Cytogenetic ◽  
Rdna Sites ◽  
Cucumis Species

Wild Cucumis species have been divided into Australian/Asian and African groups using morphological and phylogenetic characteristics, and new species have been described recently. No molecular cytogenetic information is available for most of these species. The crossability between 5 southern African Cucumis species (C. africanus, C. anguria, C. myriocarpus, C. zeyheri, and C. heptadactylus) has been reported; however, the evolutionary relationship among them is still unclear. Here, a molecular cytogenetic analysis using FISH with 5S and 45S ribosomal DNA (rDNA) was used to investigate these Cucumis species based on sets of rDNA-bearing chromosomes (rch) types I, II and III. The molecular cytogenetic and phylogenetic results suggested that at least 2 steps of chromosomal rearrangements may have occurred during the evolution of tetraploid C. heptadactylus. In step 1, an additional 45S rDNA site was observed in the chromosome (type III). In particular, C. myriocarpus had a variety of rch sets. Our results suggest that chromosomal rearrangements may have occurred in the 45S rDNA sites. We propose that polyploid evolution occurred in step 2. This study provides insights into the chromosomal characteristics of African Cucumis species and contributes to the understanding of chromosomal evolution in this genus.

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