Cargando…

New Insights in 9q21.13 Microdeletion Syndrome: Genotype–Phenotype Correlation of 28 Patients

The implementation of array comparative genomic hybridisation (array-CGH) allows us to describe new microdeletion/microduplication syndromes which were previously not identified. 9q21.13 microdeletion syndrome is a genetic condition due to the loss of a critical genomic region of approximately 750kb...

Descripción completa

Detalles Bibliográficos
Autores principales:	De Falco, Alessandro, Iolascon, Achille, Ascione, Flora, Piscopo, Carmelo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10218196/ https://www.ncbi.nlm.nih.gov/pubmed/37239476 http://dx.doi.org/10.3390/genes14051116

Ejemplares similares

Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome
por: Genesio, Rita, et al.
Publicado: (2015)

11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four‐way balanced chromosomal translocation
por: Zhang, Qinxin, et al.
Publicado: (2023)

Genome-wide association analysis with selective genotyping identifies candidate loci for adult height at 8q21.13 and 15q22.33-q23 in Mongolians
por: Kimura, Tetsuaki, et al.
Publicado: (2008)

Prenatal diagnosis of a 7q21.13q22.1 deletion detected using high-resolution microarray
por: Kim, Kyoung-Bo, et al.
Publicado: (2014)

A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome
por: Ben-Mahmoud, Afif, et al.
Publicado: (2023)

A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome
por: Ben-Mahmoud, Afif, et al.
Publicado: (2023)

Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes
por: Ambrosetti, Irene, et al.
Publicado: (2023)

A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13‐q21.3
por: Halperin, Daniel, et al.
Publicado: (2022)

Phenotypic variability in a Hungarian patient with the 4q21 microdeletion syndrome
por: Komlósi, Katalin, et al.
Publicado: (2015)

Genotypic and phenotypic variability of 22q11.2 microdeletions – an institutional experience
por: Manno, Gabrielle C., et al.
Publicado: (2021)

Rare Case of a Heterozygous Microdeletion 9q21.11-q21.2: Clinical and Genetic Characteristics
por: Ivanov, HY, et al.
Publicado: (2018)

Mid-trimester dilated fetal bowel leading to diagnosis of interstitial duplication 46,XX,dup(8)(q21.13q21.2) associated with extensive neonatal jejuno-ileal atresia
por: Sherer, David M., et al.
Publicado: (2022)

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

A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation
por: Mandrile, Giorgia, et al.
Publicado: (2014)

Prenatal phenotypes and pregnancy outcomes of fetuses with recurrent 1q21.1 microdeletions and microduplications
por: Yue, Fagui, et al.
Publicado: (2023)

COLLABORATION AGREEMENT KE2113/TE
por: THE EUROPEAN ORGANIZATION FOR NUCLEAR RESEARCH, CERN, et al.
Publicado: (2013)

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

An atypical autistic phenotype associated with a 2q13 microdeletion: a case report
por: Guivarch, Jokthan, et al.
Publicado: (2018)

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

Adult expression of a 3q13.31 microdeletion
por: Lowther, Chelsea, et al.
Publicado: (2014)

Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review
por: Hu, Jie, et al.
Publicado: (2017)

Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22
por: Kashevarova, Anna A., et al.
Publicado: (2018)

A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis
por: De Falco, Alessandro, et al.
Publicado: (2023)

A Genotype-First Approach for the Molecular and Clinical Characterization of Uncommon De Novo Microdeletion of 20q13.33
por: Traylor, Ryan N., et al.
Publicado: (2010)

19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia‐clefting syndrome phenotype
por: Abe, Kikue Terada, et al.
Publicado: (2018)

Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions
por: Kehrer-Sawatzki, Hildegard, et al.
Publicado: (2021)

Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes
por: Baba, Naomi, et al.
Publicado: (2022)

Endocrinological features of a patient with 14q microdeletion and Dubowitz phenotype
por: Amodeo, Maria Elisa, et al.
Publicado: (2021)

Genetic and ultrasonographic analyses of fetuses with 1q21.1q21.2 microdeletion/microduplication: a retrospective study
por: Guo, Nan, et al.
Publicado: (2023)

Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype
por: Ewing, Adam D., et al.
Publicado: (2021)

A novel phenotype of 13q12.3 microdeletion characterized by epilepsy in an Asian child: a case report
por: Wang, Mina, et al.
Publicado: (2020)

18q12.3‐q21.1 microdeletion detected in the prenatally alcohol‐exposed dizygotic twin with discordant fetal alcohol syndrome phenotype
por: Kahila, Hanna, et al.
Publicado: (2020)

A Novel de Novo Paracentric Inversion [inv(20)(q13.1q13.3)] Accompanied by an 11q14.3-q21 Microdeletion in a Pediatric Patient with an Intellectual Disability
por: Zachaki, S, et al.
Publicado: (2018)

A report on seven fetal cases associated with 15q11‐q13 microdeletion and microduplication
por: Huang, Xiuzhu, et al.
Publicado: (2021)

Neuroanatomical Phenotypes in a Mouse Model of the 22q11.2 Microdeletion
por: Ellegood, J., et al.
Publicado: (2013)

Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462
por: Brady, Lauren, et al.
Publicado: (2022)

2113. Infectious endocarditis in patients with hematologic malignancy at the University of Wisconsin
por: Scolarici, Michael J, et al.
Publicado: (2022)

De novo 3q13.13q21.2 interstitial deletion and paternal 12p13.3 microdeletion in a fetus with dysplasia of the corpus callosum and ventriculomegaly: A case report
por: Libotte, Francesco, et al.
Publicado: (2023)

19q13.11 microdeletion concomitant with ins(2;19)(p25.3;q13.1q13.4)dn in a boy: potential role of UBA2 in the associated phenotype
por: Venegas-Vega, Carlos, et al.
Publicado: (2014)

A Rare Case of Allantoic Cyst with Patent Urachus in Fetus with a Microdeletion in 1q21.1q21.2 Region
por: Bouariu, Alexandra, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_t3qdst7mbm33sglus5a55drmrm