Results 21 to 30 of about 18,812 (235)

Microdeletion and Microduplication Syndromes [PDF]

Journal of Histochemistry & Cytochemistry, 2012
The widespread use of whole genome analysis based on array comparative genomic hybridization in diagnostics and research has led to a continuously growing number of microdeletion and microduplication syndromes (MMSs) connected to certain phenotypes. These MMSs also include increasing instances in which the critical region can be reciprocally deleted or
Anja, Weise, Kristin, Mrasek, Elisabeth, Klein, Milene, Mulatinho, Juan C, Llerena, David, Hardekopf, Sona, Pekova, Samarth, Bhatt, Nadezda, Kosyakova, Thomas, Liehr   +9 more
openaire   +2 more sources

Epilepsy and Intellectual Disability in a Boy with a 2q13 Microdeletion Affecting the <i>BUB1</i> Gene. [PDF]

Pediatr Rep
Background: The chromosomal microdeletion syndrome 2q13 is characterized by craniofacial dysmorphism, developmental delay, intellectual disability, autism spectrum disorder, attention deficit hyperactivity disorder, cardiac abnormalities, and seizures ...
Picos-Cárdenas VJ, Avendaño-Gálvez RI, De la Herrán-Arita AK, Calderón-Zamora L, Cervín-Serrano S, Contreras-Gutiérrez JA, Cedano-Prieto DM, Meza-Espinoza JP.   +7 more
europepmc   +2 more sources

Obstetrician and Gynecologist Utilization of the Noninvasive Prenatal Testing Expanded Option

American Journal of Perinatology Reports, 2016
Objective Noninvasive prenatal testing (NIPT) enables the detection of common fetal aneuploidies such as trisomy 21, trisomy 18, trisomy 13, and sex chromosome abnormalities via analysis of cell-free fetal DNA circulating in maternal serum.
Sarah Mayes, Syed Hashmi, Mark A. Turrentine, Sandra Darilek, Lara A. Friel, Jennifer Czerwinski   +5 more
doaj   +1 more source

Chromosomal phenotypes and submicroscopic abnormalities

Human Genomics, 2004
The finding, during the last decade, that several common, clinically delineated syndromes are caused by submicroscopic deletions or, more rarely, by duplications, has provided a powerful tool in the annotation of the human genome.
Devriendt Koen, Vermeesch Joris R
doaj   +1 more source

A de novo 8q22.2q22.3 interstitial microdeletion in a girl with developmental delay and congenital defects / [PDF]

, 2023
Background and Objectives: Only nine patients with interstitial de novo 8q22.2q22.3 microdeletions have been reported to date. The objective of this report is to present clinical features of a new patient with an 8q22.2q22.3 microdeletion, to compare her
Utkus, Algirdas,, Burokienė, Neringa,, Morkūnienė, Aušra,, Dirsė, Vaidas,, Kalinauskienė, Rūta,, Braždžiūnaitė, Deimantė,, Preikšaitienė, Eglė,   +6 more
core   +2 more sources

Brain Network Analysis of EEG Recordings Can Be Used to Assess Cognitive Function in Teenagers With 15q13.3 Microdeletion Syndrome

Frontiers in Neuroscience, 2021
15q13.3 microdeletion syndrome causes a spectrum of cognitive disorders, including intellectual disability and autism. We assessed the ability of the EEG analysis algorithm Brain Network Analysis (BNA) to measure cognitive function in 15q13.3 deletion ...
Tehila Stern, Emeline H. Crutcher, Emeline H. Crutcher, John M. McCarthy, John M. McCarthy, May A. Ali, May A. Ali, Gil Issachar, Amir B. Geva, Ziv Peremen, Christian P. Schaaf, Christian P. Schaaf, Christian P. Schaaf   +12 more
doaj   +1 more source

Extended application of BACs-on-Beads technique in prenatal diagnosis

Archives of Medical Science, 2022
Introduction This study explored the application of bacterial artificial chromosomes (BACs)-on-Beads (BoBs) technique, especially its ability to detect microdeletion/microduplication regions with a single probe.
Shiyu Sun, Zhonghua Zhang, Jing Zhao, Xinqiang Lan   +3 more
doaj   +1 more source

CNV and nervous system diseases - what's new? [PDF]

, 2008
Several new genomic disorders caused by copy number variation (CNV) of genes whose dosage is critical for the physiological function of the nervous system have been recently identified.
Gu, W., Lupski, J. R.
core   +1 more source

Compound Heterozygosity for OTOA Truncating Variant and Genomic Rearrangement Cause Autosomal Recessive Sensorineural Hearing Loss in an Italian Family

Audiology Research, 2021
Hearing loss (HL) affects 1–3 newborns per 1000 and, in industrialized countries, recognizes a genetic etiology in more than 80% of the congenital cases.
Rocco Pio Ortore, Maria Pia Leone, Orazio Palumbo, Antonio Petracca, Eleonora M. C. Trecca, Aurelio D’Ecclesia, Ciro Lucio Vigliaroli, Lucia Micale, Francesco Longo, Salvatore Melchionda, Marco Castori   +10 more
doaj   +1 more source

Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3

Frontiers in Genetics, 2018
Chromosome 17p13.3 is a region of genomic instability that is linked to different rare neurodevelopmental genetic diseases, depending on whether a deletion or duplication of the region has occurred.
Sara M. Blazejewski, Sarah A. Bennison, Trevor H. Smith, Kazuhito Toyo-oka   +3 more
doaj   +1 more source