Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions

2018 ◽  
Vol 176 (12) ◽  
pp. 2901-2906
Author(s):  
Sarah L. Dugan ◽  
Emanuele Panza ◽  
Amanda Openshaw ◽  
Lorenzo D. Botto ◽  
Jose A. Camacho ◽  
...  
Keyword(s):  
Deletion Syndrome ◽  
Genomic Microarray

Clinical and Molecular Characterization of a Patient with 15q21.2q22.2 Deletion Syndrome

2014 ◽  
Vol 144 (3) ◽  
pp. 183-189 ◽  
Author(s):  
Ana C. Velázquez-Wong ◽  
Ruth Ruiz Esparza-Garrido ◽  
Miguel Á. Velázquez-Flores ◽  
Juan C. Huicochea-Montiel ◽  
Alan Cárdenas-Conejo ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Deletion Syndrome

Cognitive and Behavioral Characterization of 16p11.2 Deletion Syndrome

2010 ◽  
Vol 31 (8) ◽  
pp. 649-657 ◽  
Author(s):  
Ellen Hanson ◽  
Ramzi H. Nasir ◽  
Alexa Fong ◽  
Alyss Lian ◽  
Rachel Hundley ◽  
...  
Keyword(s):  
Deletion Syndrome ◽  
Behavioral Characterization

18. Identification of a cryptic PAX7-FOXO1 rearrangement and characterization of subsequent amplification using genomic microarray in a case of alveolar rhabdomyosarcoma

2018 ◽  
Vol 224-225 ◽  
pp. 57
Author(s):  
Benjamin Hilton ◽  
Bo Hong ◽  
David Scharnhorst ◽  
Maria Longhurst ◽  
Kathryn O'Brien ◽  
...  
Keyword(s):  
Alveolar Rhabdomyosarcoma ◽  
Genomic Microarray

The 2p21 deletion syndrome: Characterization of the transcription content

Genomics ◽  
2005 ◽  
Vol 86 (2) ◽  
pp. 195-211 ◽  
Author(s):  
R PARVARI ◽  
Y GONEN ◽  
I ALSHAFEE ◽  
S BURIAKOVSKY ◽  
K REGEV ◽  
...  
Keyword(s):  
Deletion Syndrome

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.

Distal 3p deletion syndrome: Detailed molecular cytogenetic and clinical characterization of three small distal deletions and review

2007 ◽  
Vol 143A (18) ◽  
pp. 2143-2149 ◽  
Author(s):  
Helena Malmgren ◽  
Sigrid Sahlén ◽  
Katarina Wide ◽  
Mikael Lundvall ◽  
Elisabeth Blennow
Keyword(s):  
Deletion Syndrome ◽  
Molecular Cytogenetic ◽  
3P Deletion Syndrome

scholarly journals Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome

2006 ◽  
Vol 120 (6) ◽  
pp. 837-845 ◽  
Author(s):  
Rosanna Weksberg ◽  
Andrea C. Stachon ◽  
Jeremy A. Squire ◽  
Laura Moldovan ◽  
Jane Bayani ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Deletion Syndrome ◽  
22Q11 Deletion ◽  
22Q11 Deletion Syndrome

scholarly journals CEDNIK

2017 ◽  
Vol 4 ◽  
pp. 2329048X1773321 ◽  
Author(s):  
Tina Hsu ◽  
Carrie C. Coughlin ◽  
Kristin G. Monaghan ◽  
Elise Fiala ◽  
Robert C. McKinstry ◽  
...  
Keyword(s):  
Scientific Evidence ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
Global Developmental Delay ◽  
Snare Protein ◽  
22Q11.2 Deletion ◽  
Intracellular Vesicle ◽  
Protein Dysfunction ◽  
Homozygous Nonsense Mutation

Synaptosomal-associated protein 29 (SNAP29) is a t-SNARE protein that is implicated in intracellular vesicle fusion. Mutations in the SNAP29 gene have been associated with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome (CEDNIK). In patients with 22q11.2 deletion syndrome, mutations in SNAP29 on the nondeleted chromosome are linked to similar ichthyotic and neurological phenotypes. Here, the authors report a patient with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome who presented with global developmental delay, polymicrogyria, dysgenesis of the corpus callosum, optic nerve dysplasia, gaze apraxia, and dysmorphic features. He has developed ichthyosis and palmoplantar keratoderma as he has grown. Exome sequencing identified a homozygous nonsense mutation in SNAP29 gene designated as c.85C>T (p.Arg29X). The authors compare the findings in the proband with previously reported cases. The previously unreported mutation in this patient and his phenotype add to the characterization of cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome and the accumulating scientific evidence that implicates synaptic protein dysfunction in various neuroectodermal conditions.

Sign in / Sign up

Export Citation Format

Share Document