Results 61 to 70 of about 18,812 (235)

Maternal Transmission of 17q12 Microdeletion: Intrafamilial Phenotypic Variability and Diagnostic Hurdles—A Case Report

DNA
The relatively rare proximal 17q12 microdeletion, including the deletion of the HNF1B gene, is associated with renal cysts and diabetes syndrome (RCAD). This genomic rearrangement results in a wide range of phenotypes, including renal cysts and diabetes,
Susanna Negrisolo, Gianluca Caridi, Benedetta Antoniello, Elisa Benetti   +3 more
doaj   +1 more source

Mosaicism in 22q11.2 Microdeletion Syndrome [PDF]

Journal of Clinical and Diagnostic Research, 2018
Introduction: Microdeletion syndrome is characterized by sub-microscopic chromosomal deletion smaller than 5 Million bp (5Mb) and frequently associated with multiple congenital anomalies.
Ashutosh Halder, Manish Jain, Amanpreet Kaur Kalsi   +2 more
doaj   +1 more source

Refining the electroclinical phenotype of 15q11.2 microdeletion: EEG biomarker overlap with Angelman syndrome

Epileptic Disorders, EarlyView.
Abstract The 15q11.2 microdeletion is a chromosomal condition associated with a broad epileptic phenotype. It is differentiated from Angelman syndrome, which is typically a larger maternal deletion in an overlapping area. We describe a patient with a 15q11.2 microdeletion that has clinical and EEG biomarker features similar to those seen in Angelman ...
Hok Leong Chin, Joshua Chang, Douglas Nordli III   +2 more
wiley   +1 more source

Bifid cardiac apex and spongiform cardiomyopathy in fetus with small microdeletion 16p12.2 of paternal origin. Critical points in family communication on 16p12.2 microdeletion

, 2023
Key Clinical Message From a literature review, this is the first case of fetal 16p12.2 microdeletion syndrome inherited from a normal father with autopsy description and evidence of spongious cardiomyopathy. First trimester intake of doxycycline could be
Anna F. Rispoli, Mariano Stabile, Umberto Ferbo, Maurizio Capuozzo, Guglielmo Stabile   +4 more
core   +1 more source

Genetic testing among patients evaluated for epilepsy surgery

Epileptic Disorders, EarlyView.
Abstract Objective Genetic testing performed to identify the underlying etiology of epilepsy has become increasingly common and is now being recommended as part of the presurgical evaluation for epilepsy surgery. This study aimed to characterize the types of genetic tests performed in patients evaluated for epilepsy surgery and assess how genetic ...
Anni Saarela, Veera‐Julia Kuronen, Oskari Timonen, Leena Jutila, Katri Silvennoinen, Annemari Kilpeläinen, Jarkko Kirjavainen, Reetta Kälviäinen   +7 more
wiley   +1 more source

Ocular Manifestations of a Novel Proximal 19p13.3 Microdeletion

, 2018
Microdeletions at 19p13.3 are rarely reported in the medical literature with significant phenotypic variability. Among the reported cases, common clinical manifestations have included developmental delay, facial dysmorphism, and hypotonia.
D. Coman, Coman, D., Swan, L., Swan, L, L. Swan, Coman, D   +5 more
core   +1 more source

Frequency of Y chromosome Microdeletions in Turkish Infertile Men: Single Center Experience

Genel Tıp Dergisi, 2022
Objective: Infertility is defined as the failure to achieve a clinical pregnancy after twelve months of regular unprotected sexual intercourse. Both genetic and environmental factors affect infertility.
Aysel Kalaycı Yiğin, Mehmet Seven, Deniz Ağırbaşlı, Gizem Erdoğan Erdur   +3 more
doaj   +1 more source

KBG syndrome: A scoping review of electroclinical features of patients with epilepsy

Epileptic Disorders, EarlyView.
Abstract Background and Objectives KBG syndrome is a rare autosomal developmental disorder caused by pathogenic variants of the ANKRD11 gene. This scoping review aimed to explore all current literature data regarding clinical and electroencephalographic features of patients with KBG syndrome and epilepsy. Materials and Methods We conducted a literature
Stefania Kalampokini, Evripidis Pityrigkas, Zoi Kallia, Georgia Pepe, Antonis Frontistis, Dimitrios Profer, Vasilios Kimiskidis   +6 more
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

MQF-PCR results for patients with microdeletion and microduplication syndromes.

, 2013
MQF-PCR results for patients with microdeletion and microduplication syndromes.
Martin Stofanko (236917), Pricila Silva Cunha (404713), Angela M. Vianna-Morgante (328026), Higgor Gonçalves-Dornelas (404712), Heloísa B. Pena (404714), Sérgio Danilo Junho Pena (145497)   +5 more
core   +1 more source