Constitutional DNA-level aberrations in chromosome 22 in a patient with multiple meningiomas

1994 ◽  
Vol 9 (2) ◽  
pp. 124-128 ◽  
Author(s):  
Ronald H. Lekanne Deprez ◽  
Nicole A. Groen ◽  
Derrick Louz ◽  
Theo H. Van Der Kwast ◽  
Ellen C. Zwarthoff ◽  
...  
Keyword(s):  
Chromosome 22 ◽  
Multiple Meningiomas

Multiple meningiomas in a patient with constitutional ring chromosome 22

1993 ◽  
Vol 47 (2) ◽  
pp. 184-186 ◽  
Author(s):  
Rena Petrella ◽  
Seymour Levine ◽  
Patrick L. Wilmot ◽  
Kunjlata D. Ashar ◽  
Anthony C. Casamassima ◽  
...  
Keyword(s):  
Ring Chromosome ◽  
Chromosome 22 ◽  
Multiple Meningiomas

Loss of chromosome 22 and absence of NF2 gene mutation in a case of multiple meningiomas

2002 ◽  
Vol 33 (3) ◽  
pp. 375-378 ◽  
Author(s):  
Jesus Lomas ◽  
M.Josefa Bello ◽  
M.Eva Alonso ◽  
Pilar Gonzalez-Gomez ◽  
Dolores Arjona ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Chromosome 22 ◽  
Nf2 Gene ◽  
Multiple Meningiomas

Multiple meningiomas.

1992 ◽  
Vol 158 (6) ◽  
pp. 1413-1414
Author(s):  
R N Sener ◽  
C Dundar ◽  
M Ozturk
Keyword(s):  
Multiple Meningiomas

scholarly journals Sporadic multiple meningiomas harbor distinct driver mutations

2021 ◽  
Vol 9 (1) ◽  
Author(s):  
Tareq A. Juratli ◽  
Insa Prilop ◽  
Felix C. Saalfeld ◽  
Sylvia Herold ◽  
Matthias Meinhardt ◽  
...  
Keyword(s):  
Driver Mutations ◽  
Multiple Meningiomas

scholarly journals DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome

2021 ◽  
Vol 13 (1) ◽  
Author(s):  
L. C. Schenkel ◽  
E. Aref-Eshghi ◽  
K. Rooney ◽  
J. Kerkhof ◽  
M. A. Levy ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Critical Region ◽  
Deletion Syndrome ◽  
Genetic Defects ◽  
Chromosome 22 ◽  
Incomplete Penetrance ◽  
Variable Size ◽  
Variable Expressivity ◽  
Genome Wide ◽  
22Q13.3 Deletion Syndrome

Abstract Background Phelan-McDermid syndrome is characterized by a range of neurodevelopmental phenotypes with incomplete penetrance and variable expressivity. It is caused by a variable size and breakpoint microdeletions in the distal long arm of chromosome 22, referred to as 22q13.3 deletion syndrome, including the SHANK3 gene. Genetic defects in a growing number of neurodevelopmental genes have been shown to cause genome-wide disruptions in epigenomic profiles referred to as epi-signatures in affected individuals. Results In this study we assessed genome-wide DNA methylation profiles in a cohort of 22 individuals with Phelan-McDermid syndrome, including 11 individuals with large (2 to 5.8 Mb) 22q13.3 deletions, 10 with small deletions (< 1 Mb) or intragenic variants in SHANK3 and one mosaic case. We describe a novel genome-wide DNA methylation epi-signature in a subset of individuals with Phelan-McDermid syndrome. Conclusion We identified the critical region including the BRD1 gene as responsible for the Phelan-McDermid syndrome epi-signature. Metabolomic profiles of individuals with the DNA methylation epi-signature showed significantly different metabolomic profiles indicating evidence of two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome.

scholarly journals The genomic structure of a human chromosome 22 nucleolar organizer region determined by TAR cloning

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Jung-Hyun Kim ◽  
Vladimir N. Noskov ◽  
Aleksey Y. Ogurtsov ◽  
Ramaiah Nagaraja ◽  
Nikolai Petrov ◽  
...  
Keyword(s):  
Genomic Structure ◽  
Organizer Region ◽  
Nucleolar Organizer Region ◽  
Nucleolar Organizer ◽  
Chromosome 21 ◽  
Reference Sequence ◽  
Chromosome 22 ◽  
Rdna Variation ◽  
High Level ◽  
Tar Cloning

AbstractThe rDNA clusters and flanking sequences on human chromosomes 13, 14, 15, 21 and 22 represent large gaps in the current genomic assembly. The organization and the degree of divergence of the human rDNA units within an individual nucleolar organizer region (NOR) are only partially known. To address this lacuna, we previously applied transformation-associated recombination (TAR) cloning to isolate individual rDNA units from chromosome 21. That approach revealed an unexpectedly high level of heterogeneity in human rDNA, raising the possibility of corresponding variations in ribosome dynamics. We have now applied the same strategy to analyze an entire rDNA array end-to-end from a copy of chromosome 22. Sequencing of TAR isolates provided the entire NOR sequence, including proximal and distal junctions that may be involved in nucleolar function. Comparison of the newly sequenced rDNAs to reference sequence for chromosomes 22 and 21 revealed variants that are shared in human rDNA in individuals from different ethnic groups, many of them at high frequency. Analysis infers comparable intra- and inter-individual divergence of rDNA units on the same and different chromosomes, supporting the concerted evolution of rDNA units. The results provide a route to investigate further the role of rDNA variation in nucleolar formation and in the empirical associations of nucleoli with pathology.

scholarly journals A PvuII polymorphism of the bcr region in patients with hematopoietic disorders and their families

Blood ◽  
1989 ◽  
Vol 73 (3) ◽  
pp. 814-817 ◽  
Author(s):  
B Opalka ◽  
U Wandl ◽  
O Kloke ◽  
C Oberle ◽  
J Koppe ◽  
...  
Keyword(s):  
Restriction Enzymes ◽  
Chromosome 22 ◽  
Specific Probe ◽  
Allele Polymorphism ◽  
Additional Band ◽  
Hematopoietic Malignancies ◽  
Leukemia Patient ◽  
Hematopoietic Disorders ◽  
Pvuii Polymorphism

Abstract The BCR gene on chromosome 22 has received increasing attention because of its involvement in the Philadelphia (Ph′) translocation. For most restriction enzymes, this locus has been found to be nonpolymorphic. Two alleles have only been found when Taql-digested DNA is hybridized to a 5′ bcr-specific probe. We describe another two-allele polymorphism detected by the same probe in PvuII-digested DNA. The polymorphism is characterized by an additional PvuII site in the bcr region: this causes the appearance of an additional band of about 2.3 kb or 2.5 kb besides a 4.8-kb fragment in hybridizations with the 5′ bcr or a 3′ bcr probe. The incidence of the second allele is very low. It has only been found in some patients with hematopoietic malignancies and in a group of volunteers having a leukemia patient in their families.

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