Cargando…

Rapid-Onset Obesity Due to Impulsive Food-Seeking Behavior in a Puerto Rican Child With CHRNA7 15q13.3 Microdeletion

A microdeletion in the 15q13.3 locus is an exceedingly rare condition affecting the CHRNA7 gene. There have been 11 pediatric cases of this mutation reported worldwide. Clinical characteristics of the 15q13.3 microdeletion are rapid-onset obesity, hypotonia, autism, seizures, congenital cardiac defe...

Descripción completa

Detalles Bibliográficos
Autores principales:	Jiménez, Brian L, Carlo, Simón, De Jesús Rojas, Wilfredo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cureus 2021
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8054939/ https://www.ncbi.nlm.nih.gov/pubmed/33884253 http://dx.doi.org/10.7759/cureus.14012

Ejemplares similares

A Rare Etiology of Unilateral Pseudo-Pulmonary Fibrosis in a Puerto Rican Child
por: Albors-Agulló, Daniela M, et al.
Publicado: (2021)

Is Chromosome 15q13.3 Duplication Involving CHRNA7 Associated With Oral Clefts?
por: Xie, Yingjun
Publicado: (2015)

An Inherited Small Microdeletion at 15q13.3 in a Patient with Early- Onset Obsessive-Compulsive Disorder
por: Cappi, Carolina, et al.
Publicado: (2014)

CFTR-Related Metabolic Syndrome: Genetic Variants Increasing Pancreatitis Risk in the Pediatric Puerto Rican Population
por: Meléndez-Montañez, Jesús M., et al.
Publicado: (2023)

Sexual risk behaviors in African American and Puerto Rican women: Impulsivity and self-control()
por: Lee, Jung Yeon, et al.
Publicado: (2017)

Screening for Copy Number Variations of the 15q13.3 Hotspot in CHRNA7 Gene and Expression in Patients with Migraines
por: Özaltun, Mehmet Fatih, et al.
Publicado: (2021)

Homozygous 15q13.3 microdeletion in a child with hypotonia and impaired vision: A new report and review of the literature
por: Simon, Julie, et al.
Publicado: (2019)

Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome
por: Luisa, Sciacca Francesca, et al.
Publicado: (2018)

Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome
por: Muhle, Hiltrud, et al.
Publicado: (2011)

OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome
por: Uddin, Mohammed, et al.
Publicado: (2018)

Surfactant Protein C Deficiency in a Puerto Rican Adolescent With a Rare SFTPC Genetic Variant
por: Acosta-Rivera, Victor, et al.
Publicado: (2021)

Chipping away at the common epilepsies with complex genetics: the 15q13.3 microdeletion shows the way
por: Mulley, John C, et al.
Publicado: (2009)

The politics of Puerto Rican University students/
por: Liebman, Arthur
Publicado: (1970)

Primary Ciliary Dyskinesia Diagnostic Challenges: Understanding the Clinical Phenotype of the Puerto Rican RSPH4A Founder Mutation
por: De Jesús-Rojas, Wilfredo, et al.
Publicado: (2021)

Puerto Rican government and politics : a comprehensive bibliography /
por: Meléndez, Edgardo
Publicado: (2000)

Chromosome 15q25 (CHRNA3-CHRNA5) Variation Impacts Indirectly on Lung Cancer Risk
por: Wang, Yufei, et al.
Publicado: (2011)

Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability
por: Antonacci, Francesca, et al.
Publicado: (2014)

Altered gene expression profiles impair the nervous system development in individuals with 15q13.3 microdeletion
por: Körner, Marek B., et al.
Publicado: (2022)

Maternal Health Disparities Among Puerto Ricans
por: Washio, Yukiko, et al.
Publicado: (2018)

Breastfeeding Support Group for Puerto Rican Moms
por: Washio, Yukiko, et al.
Publicado: (2018)

Genetic diversity and selection in Puerto Rican horses
por: Wolfsberger, Walter W., et al.
Publicado: (2022)

Oculocutaneous albinism in a Puerto Rican patient
por: Bindernagel, Richard, et al.
Publicado: (2023)

The holistic approach to the CHRNA7 gene, hsa-miR-3158-5p, and 15q13.3 hotspot CNVs in migraineurs
por: Yasin, Sedat, et al.
Publicado: (2023)

The Boston Puerto Rican Health Study, a longitudinal cohort study on health disparities in Puerto Rican adults: challenges and opportunities
por: Tucker, Katherine L, et al.
Publicado: (2010)

Color disparities in cognitive aging among Puerto Ricans on the archipelago
por: Liu, Mao-Mei, et al.
Publicado: (2021)

SOCIAL SUPPORT AND LONELINESS AS DETERMINANTS OF THE ONSET OF DISABILITY AMONG PUERTO RICAN OLDER ADULTS
por: Matos-Moreno, Amilcar, et al.
Publicado: (2022)

A mouse model of the 15q13.3 microdeletion syndrome shows prefrontal neurophysiological dysfunctions and attentional impairment
por: Nilsson, Simon R. O., et al.
Publicado: (2016)

Chromosome 15q24 microdeletion syndrome
por: Magoulas, Pilar L, et al.
Publicado: (2012)

Genome empowerment for the Puerto Rican parrot – Amazona vittata
por: O’Brien, Stephen J
Publicado: (2012)

Factors associated with breast cancer in Puerto Rican women
por: Morales, Luisa, et al.
Publicado: (2013)

Under-diagnosis of atopic dermatitis in Puerto Rican children
por: Yang, Ge, et al.
Publicado: (2019)

Insight on the Genetics of Atrial Fibrillation in Puerto Rican Hispanics
por: Gonzalez-Cordero, Ariel F., et al.
Publicado: (2021)

Clinical Manifestations Associated with Overweight/Obesity in Puerto Ricans with Fibromyalgia Syndrome
por: Fred-Jiménez, Ruth M., et al.
Publicado: (2016)

Seeking quantitative morphological characters for species identification in soldiers of Puerto Rican Heterotermes (Dictyoptera, Blattaria, Termitoidae, Rhinotermitidae)
por: Griebenow, Zachary H., et al.
Publicado: (2017)

Espiritismo and Santeria: a gateway to child mental health services among Puerto Rican families?
por: Zerrate, M. Carolina, et al.
Publicado: (2022)

The Role of Place of Birth and Residence in Puerto Rican Health Disparities: Evidence From Disability Prevalence Among Archipelago- Vs. Mainland-Born Puerto Ricans
por: Sheftel, Mara Getz, et al.
Publicado: (2023)

Brain Network Analysis of EEG Recordings Can Be Used to Assess Cognitive Function in Teenagers With 15q13.3 Microdeletion Syndrome
por: Stern, Tehila, et al.
Publicado: (2021)

Natural Disaster and Risk of Psychiatric Disorders in Puerto Rican Children
por: Felix, Erika, et al.
Publicado: (2011)

Mouse Allergen, Lung Function, and Atopy in Puerto Rican Children
por: Forno, Erick, et al.
Publicado: (2012)

Correction: Genome empowerment for the Puerto Rican parrot – Amazona vittata
por: O’Brien, Stephen J
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_0rqp170shv10h5fdiukh593fsl