The 18q deletion syndrome and analysis of the critical region for orofacial cleft at 18q22.3

2009 ◽  
Vol 37 (5) ◽  
pp. 272-275 ◽  
Author(s):  
Ales Dostal ◽  
Jitka Nemeckova ◽  
Renate Gaillyova
Keyword(s):  
Critical Region ◽  
Deletion Syndrome ◽  
Orofacial Cleft ◽  
18Q Deletion Syndrome

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.

Chromosome 18q Deletion Syndrome

2009 ◽  
pp. 354-354
Author(s):  
Nils Peters ◽  
Martin Dichgans ◽  
Sankar Surendran ◽  
Josep M. Argilés ◽  
Francisco J. López-Soriano ◽  
...  
Keyword(s):  
Deletion Syndrome ◽  
Chromosome 18Q ◽  
18Q Deletion Syndrome

Expanding the Neuroradiological Phenotype of 18q Deletion Syndrome

2021 ◽  
Vol 58 (12) ◽  
pp. 1187-1188
Author(s):  
Maria Francesca Gicchino ◽  
Giulio Piluso ◽  
Teresa Giugliano ◽  
Mario Cirillo ◽  
Alma Nunzia Olivieri ◽  
...  
Keyword(s):  
Deletion Syndrome ◽  
18Q Deletion Syndrome

18q Deletion syndrome: A neuropsychological case study

Neurocase ◽  
2009 ◽  
Vol 15 (2) ◽  
pp. 101-109 ◽  
Author(s):  
Deborah Arguedas ◽  
Jennifer Batchelor
Keyword(s):  
Deletion Syndrome ◽  
18Q Deletion Syndrome

scholarly journals A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome

2004 ◽  
Vol 49 (8) ◽  
pp. 440-444 ◽  
Author(s):  
Naoki Harada ◽  
Remco Visser ◽  
Angie Dawson ◽  
Makoto Fukamachi ◽  
Mie Iwakoshi ◽  
...  
Keyword(s):  
Critical Region ◽  
Terminal Deletion ◽  
Deletion Syndrome

scholarly journals Chromosome 4q deletion syndrome: Narrowing the cardiovascular critical region to 4q32.2-q34.3

2012 ◽  
Vol 158A (3) ◽  
pp. 635-640 ◽  
Author(s):  
Wenbo Xu ◽  
Ayesha Ahmad ◽  
Susan Dagenais ◽  
Ramaswamy K. Iyer ◽  
Jeffrey W. Innis
Keyword(s):  
Critical Region ◽  
Deletion Syndrome

Holoprosencephaly with cerebellar vermis hypoplasia in 13q deletion syndrome: Critical region for cerebellar dysgenesis within 13q32.2q34

2015 ◽  
Vol 37 (7) ◽  
pp. 714-718 ◽  
Author(s):  
Masakazu Mimaki ◽  
Takashi Shiihara ◽  
Mio Watanabe ◽  
Kyoko Hirakata ◽  
Satoru Sakazume ◽  
...  
Keyword(s):  
Critical Region ◽  
Cerebellar Vermis ◽  
Deletion Syndrome ◽  
13Q Deletion
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