Prenatal ultrasound finding of atypical genitalia: Counseling, genetic testing and outcomes

Y van Bever, IAL Groenenberg… - Prenatal …, 2023 - Wiley Online Library
Objective To report uptake of genetic counseling (GC) and prenatal genetic testing after the
finding of atypical genitalia on prenatal ultrasound (US) and the clinical and genetic findings …

Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series

M Lesieur‐Sebellin, M Till, P Khau Van Kien… - Prenatal …, 2022 - Wiley Online Library
Objective Terminal 6q deletion is a rare genetic condition associated with a
neurodevelopmental disorder characterized by intellectual disability and structural brain …

Quaking but not parkin is the major tumor suppressor in 6q deleted region in glioblastoma

FB Aksoy Yasar, T Shingu, DB Zamler… - Frontiers in Cell and …, 2022 - frontiersin.org
Glioblastoma (GBM) is a high-grade, aggressive brain tumor with dismal median survival
time of 15 months. Chromosome 6q (Ch6q) is a hotspot of genomic alterations, which is …

OPEN ACCESS EDITED BY

D Chakravarti, B Hu, RT Simões, J Hu… - … Pathways in Cancer …, 2023 - books.google.com
Gliomas are primary tumors that arise from the supporting glial cells or progenitor cells of the
brain and the spinal cord (Cohen and Colman, 2015; Lapointe et al., 2018). The most …

[HTML][HTML] Terminal 6q27 Microdeletion Syndrome: A Case Report

MF Vieira, D Carvalho, F Valentim, DM Branco… - Cureus, 2022 - ncbi.nlm.nih.gov
A 10-year-old female with a history of global developmental delay (reduced concentration,
cognitive impairment, and difficulty in reading and writing), scoliosis, aggressiveness, toe …

[HTML][HTML] Implication of Genetic Testing and Pregnancy Outcome in a Woman with Unbalanced Translocation t (1; 6)

M Jurčenko, M Auzenbaha, I Mičule… - The American Journal …, 2022 - ncbi.nlm.nih.gov
Objective: Rare disease Background: Parental chromosomal structural abnormalities can
lead to diverse chromosomal imbalances at meiotic segregation during gametogenesis and …

Terminal 6q27 Microdeletion Syndrome: A Case Report

FV Maycoll, D Carvalho, V Filipa, DM Branco… - Cureus, 2022 - search.proquest.com
A 10-year-old female with a history of global developmental delay (reduced concentration,
cognitive impairment, and difficulty in reading and writing), scoliosis, aggressiveness, toe …