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

scholarly journals 13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay

Genes ◽  
2021 ◽  
Vol 12 (9) ◽  
pp. 1318
Author(s):  
Flavia Privitera ◽  
Arianna Calonaci ◽  
Gabriella Doddato ◽  
Filomena Tiziana Papa ◽  
Margherita Baldassarri ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Critical Region ◽  
Deletion Syndrome ◽  
Rb1 Gene ◽  
Psychomotor Delay ◽  
Contiguous Gene ◽  
Critical Regions ◽  
Neurodevelopmental Phenotype ◽  
13Q Deletion

Retinoblastoma (RB) is an ocular tumor of the pediatric age caused by biallelic inactivation of the RB1 gene (13q14). About 10% of cases are due to gross-sized molecular deletions. The deletions can involve the surrounding genes delineating a contiguous gene syndrome characterized by RB, developmental anomalies, and peculiar facial dysmorphisms. Overlapping deletions previously found by traditional and/or molecular cytogenetic analysis allowed to define some critical regions for intellectual disability (ID) and multiple congenital anomalies, with key candidate genes. In the present study, using array-CGH, we characterized seven new patients with interstitial 13q deletion involving RB1. Among these cases, three patients with medium or large 13q deletions did not present psychomotor delay. This allowed defining a minimal critical region for ID that excludes the previously suggested candidate genes (HTR2A, NUFIP1, PCDH8, and PCDH17). The region contains 36 genes including NBEA, which emerged as the candidate gene associated with developmental delay. In addition, MAB21L1, DCLK1, EXOSC8, and SPART haploinsufficiency might contribute to the observed impaired neurodevelopmental phenotype. In conclusion, this study adds important novelties to the 13q deletion syndrome, although further studies are needed to better characterize the contribution of different genes and to understand how the haploinsufficiency of this region can determine ID.

Neural tube defects and the 13q deletion syndrome: Evidence for a critical region in 13q33-34

2000 ◽  
Vol 91 (3) ◽  
pp. 227-230 ◽  
Author(s):  
Jeffrey Luo ◽  
Nancy Balkin ◽  
Julie F. Stewart ◽  
John F. Sarwark ◽  
Joel Charrow ◽  
...  
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Critical Region ◽  
Deletion Syndrome ◽  
13Q Deletion

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 Chromosome 13q deletion syndrome involving 13q31-qter: A case report

2017 ◽  
Vol 15 (6) ◽  
pp. 3658-3664 ◽  
Author(s):  
Yue-Ping Wang ◽  
Da-Jia Wang ◽  
Zhi-Bin Niu ◽  
Wan-Ting Cui
Keyword(s):  
Case Report ◽  
Deletion Syndrome ◽  
Chromosome 13Q ◽  
13Q Deletion

Retinoblastoma and the 13q Deletion Syndrome

2001 ◽  
Vol 38 (4) ◽  
pp. 247-250
Author(s):  
Anuradha Ganesh ◽  
Ravinder K Kenue ◽  
Sandip Mitra
Keyword(s):  
Deletion Syndrome ◽  
13Q Deletion

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

Secondary Burkitt lymphoma in a retinoblastoma patient with 13q deletion syndrome

2006 ◽  
Vol 46 (4) ◽  
pp. 524-526 ◽  
Author(s):  
Suradej Hongeng ◽  
Surapan Parapakpenjun ◽  
Samart Pakakasama ◽  
Busaba Rerkamnuaychoke ◽  
Ratanaporn Pornkul
Keyword(s):  
Burkitt Lymphoma ◽  
Deletion Syndrome ◽  
Retinoblastoma Patient ◽  
13Q Deletion

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
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