Results 141 to 150 of about 4,368 (158)

Spectrum of Copy Number Variants in Fetal Congenital Heart Disease and Their Clinical Implications: A Retrospective Study from a Tertiary Care Center. [PDF]

Diagnostics (Basel)
Cai M, Lin N, Fu M, Que Y, Zheng M, Xu L, Huang H.   +6 more
europepmc   +1 more source

7p22.2 Microduplication: A Pathogenic CNV?

Genes, 2023
Partial duplication of the short arm of chromosome 7 is a rare chromosome rearrangement. The phenotype spectrum associated with this rearrangement is extremely variable even if in the last decade the use of high-resolution microarray technology for the ...
Alberto Montesanto, Daniela Concolino, Francesco Guarasci   +2 more
exaly   +2 more sources

Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication

Biomedicines, 2022
The chromosomal region 17p13.3 contains extensive repetitive sequences and is a well-recognized region of genomic instability. The 17p13.3 microduplication syndrome has been associated with a clinical spectrum of moderately non-specific phenotypes ...
Ana Rita Soares, Jorge Diogo da Silva
exaly   +2 more sources

7p22.1 Microduplication Syndrome: Refinement of the Critical Region

European Journal of Medical Genetics, 2017
7p22.1 microduplication syndrome is mainly characterized by developmental and speech delay, craniofacial dysmorphisms and skeletal abnormalities. The minimal critical region includes two OMIM genes: ACTB and RNF216. Here, we report on a girl carrying the
Arianna Tucci, Donatella Milani, Lidia Pezzani   +2 more
exaly   +2 more sources

A 15q24 Microduplication, Reciprocal to the Recently Described 15q24 Microdeletion, in a Boy Sharing Clinical Features With 15q24 Microdeletion Syndrome Patients

European Journal of Medical Genetics, 2008
A 15q24 microduplication, reciprocal to the minimal critical region for the recently described 15q24 microdeletion syndrome, was found in a 2-year-old boy by 244k Agilent oligoarray CGH analysis.
Maria Kirchhoff
exaly   +2 more sources

Microduplication 22q11.2: A Benign Polymorphism or a Syndrome With a Very Large Clinical Variability and Reduced Penetrance?—Report of Two Families

American Journal of Medical Genetics, Part A, 2008
We report on two unrelated families where the probands presented with learning difficulties and a microduplication 22q11.2. In the first family the proband was a 7-year-old boy who was referred because of psychomotor retardation, behavioral problems ...
Winnie Courtens, Courtens, Winnie, Annick Laridon, Schramme, Inge, Laridon, Annick, Inge Schramme   +5 more
exaly   +2 more sources

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Prenatal Features of 17q12 Microdeletion and Microduplication Syndromes: A Retrospective Case Series

Taiwanese Journal of Obstetrics and Gynecology, 2021
Tong Ru
exaly  

A Cross-Sectional Survey of Pregnant Women's Knowledge of Chromosomal Aneuploidy and Microdeletion and Microduplication Syndromes

European Journal of Obstetrics, Gynecology and Reproductive Biology, 2021
Jing Yang, Jimei Sun
exaly  

A Novel Microdeletion/Microduplication Syndrome of 19p13.13

Genetics in Medicine, 2010
Susan A. Berry, Mary Ella Pierpont, Betsy Hirsch   +2 more
exaly  

7q11.23 Microduplication: A Recognizable Phenotype

Clinical Genetics, 2013
George Tanteles, M Suri, S Mansour
exaly