Cargando…

De Novo Interstitial Deletion of 9q in a Pediatric Patient With Global Developmental Delay

Cytogenomic microarray (CMA) methodologies, including array comparative genomic hybridization (aCGH) and single-nucleotide polymorphism-detecting arrays (SNP-array), are recommended as the first-tier test for the evaluation of imbalances associated with intellectual disability, autism, and multiple...

Descripción completa

Detalles Bibliográficos
Autores principales:	Keselman, Dennis, Singh, Ram, Cohen, Ninette, Fefer, Zipora
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	SAGE Publications 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6506918/ https://www.ncbi.nlm.nih.gov/pubmed/31106228 http://dx.doi.org/10.1177/2329048X19844920

Ejemplares similares

De novo interstitial deletion of 15q22q23 with global developmental delay and hypotonia: the first Korean case
por: Kim, Ha-Su, et al.
Publicado: (2015)

A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristics
por: Lagou, Magdalini, et al.
Publicado: (2014)

Clinical and Molecular Delineation of a Novel De Novo 4q28.3-31.21 Interstitial Deletion in a Patient with Developmental Delay
por: Rim, John Hoon, et al.
Publicado: (2015)

de novo interstitial deletions at the 11q23.3-q24.2 region
por: Su, Jiasun, et al.
Publicado: (2016)

A De Novo 8q22.2q22.3 Interstitial Microdeletion in a Girl with Developmental Delay and Congenital Defects
por: Kalinauskiene, Ruta, et al.
Publicado: (2023)

De Novo Interstitial Microdeletion at 1q32.1 in a 10-Year-Old Boy with Developmental Delay and Dysmorphism
por: Carter, Jennifer, et al.
Publicado: (2016)

Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay
por: Singh, Ram, et al.
Publicado: (2021)

A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability
por: Yuan, Haiming, et al.
Publicado: (2016)

Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation
por: Marshall, Lauren S, et al.
Publicado: (2013)

Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2)
por: Lalani, Seema R, et al.
Publicado: (2006)

Heterozygous Deletion of Chromosome 15q13.3 in a Boy with Developmental Regression, Global Developmental Delay, Hypotonia, and Short Stature
por: Strauss, Allison M., et al.
Publicado: (2022)

Genomic Features of Interstitial Deletions of Chromosome 9q in Acute Myeloid Leukemia
por: Qi, Zhongxia, et al.
Publicado: (2022)

Deletion at 12q12 increases the risk of developmental delay and intellectual disability
por: Weng, Ying, et al.
Publicado: (2018)

Patient With Delayed Development Resulting From De Novo Duplication of 7q36.1-q36.3 and Deletion of 9p24.3
por: Choi, Asayeon, et al.
Publicado: (2017)

Phenotypic and genetic characterization of a patient with a de novo interstitial 14q24.1q24.3 deletion
por: Tassano, Elisa, et al.
Publicado: (2014)

Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay
por: Tayeh, Marwan K, et al.
Publicado: (2015)

An Interstitial Deletion at 10q26.2q26.3
por: Iourov, Ivan Y., et al.
Publicado: (2014)

Interstitial de novo 18q22.3q23 deletion: clinical, neuroradiological and molecular characterization of a new case and review of the literature
por: Tassano, Elisa, et al.
Publicado: (2016)

The First Korean Case of De Novo Proximal 4p Deletion Syndrome in a Child With Developmental Delay
por: Park, Soyoung, et al.
Publicado: (2020)

De novo 1Mb interstitial deletion of 8p22 in a patient with slight mental retardation and speech delay
por: Piovani, Giovanna, et al.
Publicado: (2014)

A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms
por: Hladilkova, Eva, et al.
Publicado: (2015)

Characterization of an unbalanced translocation causing 3q28qter duplication and 10q26.2qter deletion in a patient with global developmental delay and self-injury
por: Osei-Owusu, Ikeoluwa A., et al.
Publicado: (2020)

De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features
por: Yamamoto, Toshiyuki, et al.
Publicado: (2013)

Prenatal diagnosis of a de novo interstitial deletion of 11q (11q22.3 → q23.3) associated with abnormal ultrasound findings by array comparative genomic hybridization
por: Liu, Nian, et al.
Publicado: (2014)

A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures
por: Zhuang, Jianlong, et al.
Publicado: (2023)

An Interstitial Deletion at 7q33-36.1 in a Patient with Intellectual Disability, Significant Language Delay, and Severe Microcephaly
por: Kale, Trupti, et al.
Publicado: (2016)

A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia
por: Moskowitz, Abby M., et al.
Publicado: (2016)

Prenatal Diagnosis of Combined Maternal 4q Interstitial Deletion and Paternal 15q Microduplication
por: Libotte, Francesco, et al.
Publicado: (2021)

Case Report: Identification of a de novo Microdeletion 1q44 in a Patient With Seizures and Developmental Delay
por: Tung, Yiehen, et al.
Publicado: (2021)

Deletion of 7q33-q35 in a Patient with Intellectual Disability and Dysmorphic Features: Further Characterization of 7q Interstitial Deletion Syndrome
por: Dilzell, Kristen, et al.
Publicado: (2015)

Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations
por: Sirisena, Nirmala D., et al.
Publicado: (2013)

A Novel 3q29 Deletion in Association With Developmental Delay and Heart Malformation—Case Report With Literature Review
por: Chirita Emandi, Adela, et al.
Publicado: (2019)

Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion
por: Okazaki, Tetsuya, et al.
Publicado: (2022)

De novo mutations in PURA are associated with hypotonia and developmental delay
por: Tanaka, Akemi J., et al.
Publicado: (2015)

Kallmann syndrome in a patient with Weiss–Kruszka syndrome and a de novo deletion in 9q31.2
por: Iivonen, Anna-Pauliina, et al.
Publicado: (2021)

Overlapping Interstitial Deletions of the Region 9q22.33 to 9q33.3 of Three Patients Allow Pinpointing Candidate Genes for Epilepsy and Cleft Lip and Palate
por: Szalai, Renata, et al.
Publicado: (2023)

SAT-055 A De Novo 1p13.2 Deletion Related to Short Stature, Hypothyroidism and Mild Developmental Delay
por: Vlachopapadopoulou, Elpis Athina, et al.
Publicado: (2020)

Identification of a De Novo Deletion by Using A-CGH Involving PLNAX2: An Interesting Candidate Gene in Psychomotor Developmental Delay
por: Falcone, Noemi, et al.
Publicado: (2022)

A de novo chromosome 9p duplication in a female child with short stature and developmental delay
por: Tkemaladze, Tinatin, et al.
Publicado: (2023)

De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies
por: Dinwiddie, Darrell L, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_ktbqfoe83mg9h52nana7u6h5hu