Conserved autosomal syntenic group on mouse (MMU) chromosome 15 and human (HSA) chromosome 22: assignment of a gene for arylsulfatase A to MMU 15 and regional mapping of DIAl, ARSA, and ACO2 on HSA 22

1981 ◽  
Vol 31 (2) ◽  
pp. 58-69 ◽  
Author(s):  
U. Francke ◽  
P. Tetri ◽  
R.T. Taggart ◽  
N. Oliver
Keyword(s):  
Chromosome 22 ◽  
Chromosome 15 ◽  
Arylsulfatase A ◽  
Regional Mapping ◽  
Syntenic Group

scholarly journals Prenatal diagnosis of a new case: De novo balanced non-Robertsonian translocation involving t(15;22)(p11.2;q11.2)

2018 ◽  
Vol 21 (2) ◽  
pp. 69-72
Author(s):  
Eİ Atli ◽  
H Gurkan ◽  
E Atli ◽  
H Tozkir ◽  
GF Varol ◽  
...  
Keyword(s):  
Robertsonian Translocation ◽  
De Novo ◽  
Chorionic Villus ◽  
Comparative Genomic ◽  
Chromosome 22 ◽  
Chromosome 15 ◽  
Unusual Event ◽  
First Case ◽  
Unusual Phenomenon ◽  
Acrocentric Chromosomes

Abstract The balanced non-Robertsonian translocation (ROB) associated with acrocentric chromosomes is an unusual phenomenon. We report the case of rare non-ROB involving chromosomes 15 and 22 with cytogenetic and molecular cytogenetic findings of 46,XY,t(15;22)(p11.2;q11.2). To the best of our knowledge, t(15;22) is the first report of this breakpoint that is not the usual non-ROB. The karyotype of the chorionic villus cell was 46,XY,t(15;22)(p11.2; q11.2) from two different initial cultures. This is different from the usual non-ROB of acrocentric chromosomes. Comparative genomic hybridization has been performed to determine the chromosomal origin. Non-Robertsonian translocation associated with acrocentric chromosomes is an unusual event and only a few cases have been reported. In this study, we observed acrocentric chromosomes 15 and 22 as a rarely balanced non-ROB, where satellites of chromosome 15 translocated to chromosome 22 and part of chromosome 22 were translocated to chromosome 15. To the best of our knowledge, our patient is the first case reported in the literature for this translocation in prenatal and postnatal periods.

The Fibulin-1 Gene (FBLN1) Is Located on Human Chromosome 22 and on Mouse Chromosome 15

Genomics ◽  
1994 ◽  
Vol 22 (2) ◽  
pp. 437-438 ◽  
Author(s):  
Marie-Geneviève Mattei ◽  
Te-Cheng Pan ◽  
Rui-Zhu Zhang ◽  
Rupert Timpl ◽  
Mon-Li Chu
Keyword(s):  
Human Chromosome ◽  
Mouse Chromosome ◽  
Chromosome 22 ◽  
Chromosome 15

Regional mapping of chromosome 15

1978 ◽  
Vol 22 (1-6) ◽  
pp. 511-512 ◽  
Author(s):  
L. Pajunen ◽  
E. Solomon ◽  
S. Burgess ◽  
M. Bobrow ◽  
S. Povey ◽  
...  
Keyword(s):  
Chromosome 15 ◽  
Regional Mapping

scholarly journals Incorporation of molecular data and redefinition of phenotype: new approaches to genetic epidemiology of bipolar manic depressive illness and schizophrenia

2001 ◽  
Vol 3 (1) ◽  
pp. 63-71
Keyword(s):  
Meta Analysis ◽  
Molecular Data ◽  
Depressive Illness ◽  
Mental Illnesses ◽  
Chromosome 22 ◽  
Chromosome 15 ◽  
Chromosome 6 ◽  
Manic Depressive Illness ◽  
Genetic Components ◽  
Manic Depressive

Considerable advances have been made in identifying specific genetic components of bipolar manic depressive illness (BP) and schizophrenia (SZ), despite their complex inheritance. Meta-analysis of all published whole-genome linkage scans reveals overall support for illness genes in several chromosomal regions. In two of these regions, on the lonq arm of chromosome 13 and on the long arm of chromosome 22, the combined studies of BP and SZ are consistent with a common susceptibility locus for the two disorders. This lends some plausibility to the hypothesis of some shared genetic predispositions for BP and SZ. Other linkages are supported by multiple studies of specific chromosomal regions, most notably two regions on chromosome 6 in SZ. The velocardiofacial syndrome is associated with deletions very close to the linkage region on chromosome 22, and with psychiatric manifestations of both BP and SZ. Endophenotypes of SZ, previously demonstrated to be heritable, have been found to have chromosomal linkage in at least one study. These include eye-tracking abnormalities linked to the short arm of chromosome 6, and abnormality of the P50 cortical evoked potential linked to chromosome 15. Variants in specific genes have been associated with susceptibility to illness, and other genes have been associated with susceptibility to side effects of pharmacological treatment. These genetic findings may eventually be part of an integrated genetic, environmental, and interactive-factor epidemiology of the major mental illnesses.

The bovine lactoferrin gene (LTF) maps to Chromosome 22 and syntenic group U12

1994 ◽  
Vol 5 (8) ◽  
pp. 486-489 ◽  
Author(s):  
M. Schwerin ◽  
S. Solinas Toldo ◽  
A. Eggen ◽  
R. Brunner ◽  
H. M. Seyfert ◽  
...  
Keyword(s):  
Chromosome 22 ◽  
Bovine Lactoferrin ◽  
Syntenic Group ◽  
Lactoferrin Gene

Isolation and Regional Mapping of 110 Chromosome 22 STSs

Genomics ◽  
1994 ◽  
Vol 24 (3) ◽  
pp. 588-592 ◽  
Author(s):  
Thomas J. Hudson ◽  
Angela M.E. Colbert ◽  
Mary Pat Reeve ◽  
Jane S. Bae ◽  
Matthias K. Lee ◽  
...  
Keyword(s):  
Chromosome 22 ◽  
Regional Mapping

Syntenic assignment of CD3G to bovine chromosome 15

1999 ◽  
Vol 30 (1) ◽  
pp. 67-68
Author(s):  
M. R. V. Amarante ◽  
C. R. Lopes ◽  
J. E. Womack
Keyword(s):  
Bovine Chromosome ◽  
Chromosome 15

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.

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