Results 51 to 60 of about 6,628 (168)

A Practical Guide to Chromosome Microarray Interpretation for Paediatricians

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Introduction Chromosome microarray (CMA) is a test commonly ordered by general paediatricians. It has diagnostic yield between 10%–15% in individuals with neurodevelopmental delay, autism and/or multiple congenital abnormalities. CMA identifies copy number variants (CNV) including deletions and duplications, which may be pathogenic, variants ...
Zachary E. McPherson, Margit Shah, Sarah Josephi‐Taylor, Brieana Dance, Benjamin Nash, Luke St Heaps, Dale Wright, Janette Hayward, Christopher Elliot, Joshua Steadson, Alan Ma   +10 more
wiley   +1 more source

Soft tissue sarcoma subtypes exhibit distinct patterns of acquired uniparental disomy

BMC Medical Genomics, 2012
Background Soft tissue sarcomas (STS) are heterogeneous mesenchymal tumors with diverse subtypes. STS can be classified into two main categories according to the type of genomic alteration: recurrent translocation driven STS, and non-recurrent ...
Tuna Musaffe, Ju Zhenlin, Amos Christopher I, Mills Gordon B   +3 more
doaj   +1 more source

Genetics Etiologies Associated with Fetal Growth Restriction

Maternal-Fetal Medicine, 2022
. Fetal growth restriction (FGR) is associated with multiple adverse perinatal outcomes, such as increased risk of intrauterine death, neonatal morbidity and mortality, and long-term adverse outcomes.
Dayuan Shi, Luyao Cai, Luming Sun, Dandan Shi   +3 more
doaj   +1 more source

Altered neural electrophysiological properties in the anterior cingulate cortex in a mouse model of Prader‐Willi syndrome

The Journal of Physiology, EarlyView.
Abstract figure legend Prader‐Willi syndrome (PWS) originates from deficiencies in chromosome 15q11‐13 region clustering around a critical region containing multiple‐repeat non‐coding RNA gene Snord116, resulting in metabolic and behavioural abnormalities leading to hyperphagia and obesity.
Volodymyr Rybalchenko, Ryan Butler
wiley   +1 more source

First maternal uniparental disomy for chromosome 2 with PREPL novel frameshift mutation of congenital myasthenic syndrome 22 in an infant

Molecular Genetics & Genomic Medicine, 2020
Background Congenital myasthenic syndrome 22 (CMS22) is a rare autosomal recessive disorder due to isolated PREPL deficiency and characterized by neonatal hypotonia, muscular weakness, and feeding difficulties. Eight such cases have already been reported,
Ping Zhang, Bingbing Wu, Yulan Lu, Qi Ni, Renchao Liu, Wenhao Zhou, Huijun Wang   +6 more
doaj   +1 more source

Hepatoblastoma in an infant with paternal uniparental disomy 14 [PDF]

Congenital Anomalies, 2012
ABSTRACTA 29‐year‐old primigravida developed polyhydramnios at 24 weeks of gestation, requiring six serial amnioreductions. In addition, prenatal ultrasound examinations revealed a fetus with small stomach pouch, small thorax, slightly shortened limbs, and skin edema; paternal uniparental disomy 14(upd(14)pat) phenotype was suspected.
Mariko, Horii, Hiroko, Horiuchi, Mikio, Momoeda, Machiko, Nakagawa, Michio, Hirata, Isao, Kusakawa, Michiko, Yamanaka   +6 more
openaire   +2 more sources

Functional constipation in children and young adults with Prader–Willi syndrome

JPGN Reports, Volume 7, Issue 3, Page 410-415, August 2026.
Abstract Objectives Prader–Willi Syndrome (PWS) is characterized by hyperphagia, endocrinopathies, and gastrointestinal abnormalities. Clinical concerns about constipation and fecal incontinence (FI) are common, but no studies to date have clear data on functional defecation disorders in children with PWS.
Melinda J. Pierce, Isabella Niu, Lusine Ambartsumyan, Parisa Salehi   +3 more
wiley   +1 more source

Revertant Mosaicism Obscures Long‐Awaited Molecular Confirmation of Diamond‐Blackfan Anemia

American Journal of Medical Genetics Part A, EarlyView.
Nicholas A. Borja, Mustafa Tekin
wiley   +1 more source

Prenatal Genetic Testing for Beckwith‐Wiedemann Syndrome: Considerations, Challenges and Observations (A Real‐World Study)

Prenatal Diagnosis, Volume 46, Issue 9, Page 1486-1493, August 2026.
ABSTRACT Objective Prenatal genetic testing for imprinting disorders is rarely requested with the exception of Beckwith‐Wiedemann syndrome (BWS) which is associated with specific ultrasound findings (e.g., placental mesenchymal dysplasia, omphalocele). However, genetic testing for BWS is challenging as aberrant DNA methylation has to be addressed which
Melissa Connolly, Louise McClelland, Pierpaola Tannorella, Tanja Richter, Ester Mainini, Andreas Dufke, Annette Lischka, Matthias Begemann, Katja Eggermann, Thomas Eggermann, Silvia Russo   +10 more
wiley   +1 more source

Robertsonian translocation 13/14 associated with rRNA genes overexpression and intellectual disability

Egyptian Journal of Medical Human Genetics, 2018
Background: The Robertsonian translocations inherited from parents with a normal phenotype are often discovered through children with pathogenesis.
Alexander A. Dolskiy, Natalya A. Lemskaya, Yulia V. Maksimova, Asia R. Shorina, Irina S. Kolesnikova, Dmitry V. Yudkin   +5 more
doaj   +1 more source