Results 31 to 40 of about 4,847 (135)

A rare case of Beckwith-Wiedemann syndrome with encephalocele

The Pan African Medical Journal, 2020
A premature female child was delivered with polyhydramnios, an unusually large placenta and long umbilical cord. The clinical examination revealed that there is macrosomia, macroglossia and encephalocele. The patient also had complains of hypoglycemia on
Rakesh Khatana, Anamika Khatana
doaj   +1 more source

Implications of uniparental disomy in forensic kinship testing: A case study of paternal isodisomy on chromosome 3

Journal of Forensic Sciences, EarlyView.
Abstract In typical inheritance, a child receives one chromosome of each pair from each parent. In rare cases, however, both chromosomes may be inherited from the same parent, a phenomenon known as uniparental disomy (UPD). In forensic kinship testing, UPD can lead to Mendelian inconsistencies between parent and child, increasing the risk of ...
Hannah Fontanil, Sharlize Pedroza Matute, Thomas Haizel, Sasitaran Iyavoo   +3 more
wiley   +1 more source

Diagnosis and Management of Beckwith-Wiedemann Syndrome

Frontiers in Pediatrics, 2020
Beckwith-Wiedemann syndrome (BWS) is a human genomic imprinting disorder that presents with a wide spectrum of clinical features including overgrowth, abdominal wall defects, macroglossia, neonatal hypoglycemia, and predisposition to embryonal tumors. It
Kathleen H. Wang, Jonida Kupa, Kelly A. Duffy, Jennifer M. Kalish, Jennifer M. Kalish, Jennifer M. Kalish   +5 more
doaj   +1 more source

The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023

Acta Ophthalmologica, EarlyView.
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg, Jenny Gyllén, Birgitte Haargaard, Alf Nyström, Arzu Karatepe Hashas, Anna Linnarsson Wiklund, Eric Trocmé, Ulrika Kjellström, Kristina Tornqvist, Gunilla Magnusson   +9 more
wiley   +1 more source

Trisomy 13 with unusual histological features typically described in Beckwith-Wiedemann Spectrum

Autopsy and Case Reports
Trisomy 13, known as Patau syndrome, is a common aneuploidy with a well-known clinical phenotype. This case report describes a trisomy 13 patient with unusual autopsy findings, including features resembling the Beckwith-Wiedemann Spectrum.
Wilker Dias Martins, Elisa França Chaves, Flavia Cristina Gonçalves de Aquino, Sean Brasil de Oliveira, Isabela Dorneles Pasa, Bruno Guimarães Marcarini, Vitor Ribeiro Paes, Chong Ae Kim, Regina Schultz   +8 more
doaj   +1 more source

A Rare Side Effect of Diazoxide Therapy: Pulmonary Hipertension

Journal of Behçet Uz Children's Hospital, 2020
We present a newborn diagnosed with Beckwith-Wiedemann syndrome and hypoglycemia, and developed pulmonary hypertension due to initiated diazoxide treatment because of these indications.
Alper Hazım Gürsu, Emine Azak, Eda Mengen, Sevim Ünal, Ibrahim Ilker Cetin   +4 more
doaj   +1 more source

Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype–Phenotype Correlation

Clinical Genetics, EarlyView.
Copy number variations (CNVs) in 11p15.5 account for more than 2% of the molecular disturbances in the imprinting disorders Beckwith–Wiedemann and Silver–Russell syndrome. Their size and gene content vary, and therefore the impact on the phenotype is variable. Based on published data from > 220 carriers, an overview of the pathogenicity of 11p15.5 CNVs
Anastasia Maria Licata, Elke Botzenhart, Katja Kloth‐Stachnau, Thomas Eggermann   +3 more
wiley   +1 more source

Meningocele in a Congolese Female with Beckwith-Wiedemann Phenotype

Case Reports in Genetics, 2014
Beckwith-Wiedemann syndrome (BWS) is a rare congenital syndrome characterized by an overgrowth, macroglossia, exomphalos, and predisposition to embryonal tumors. Central nervous abnormalities associated with BWS are rare.
Sébastien Mbuyi-Musanzayi, Toni Lubala Kasole, Aimé Lumaka, Tony Kayembe Kitenge, Leon Kabamba Ngombe, Prosper Kalenga Muenze, Prosper Lukusa Tshilobo, François Tshilombo Katombe, Célestin Banza Lubaba Nkulu, Koenraad Devriendt   +9 more
doaj   +1 more source

Analysis of Human Uniparental Embryonic Stem Cells Reveals New Putative Imprinted Loci

Cell Proliferation, EarlyView.
To identify novel imprinted genes, parthenogenetic, androgenetic and biparental human embryonic stem cells and their differentiated neural progenitors were analysed by methylome and transcriptome profiling. This approach uncovered 12 putative novel imprinted genes, including a clustered region on chromosome 19, expanding the current catalogue of ...
Shay Kinreich, Nissim Benvenisty
wiley   +1 more source

Experiences of Dutch parents undergoing prenatal genomic testing for fetal structural anomalies: A prospective qualitative analysis

Journal of Genetic Counseling, Volume 35, Issue 2, April 2026.
Abstract Prenatal Exome Sequencing (pES) increases the diagnostic rate for genetic disorders in pregnancies with structural abnormalities and substantially impacts parental decision‐making regarding pregnancy continuation or termination. Previous qualitative research on parental experiences of pES has typically been performed several months after ...
Maayke A. de Koning, Sarah Long, Holly E. Evans, Lauren Kelada, Gijs W. E. Santen, Tony Roscioli, Manon Suerink   +6 more
wiley   +1 more source