15q11.2 Microdeletion Latest Advances

Simultaneous Le Fort III and Le Fort I Osteotomies for Rare Midfacial Hypoplasia in a Patient with 15q11.2 Microdeletion-A Multidisciplinary Approach.

Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

Published: September 15, 2025

Early-Onset 15q11.2 Microdeletion Syndrome in a Six-Year-Old Child: A Case Report of Refractory Epilepsy, Autism, and Multisystem Manifestations.

Journal: Cureus

Published: August 19, 2025

Case Report: Synergistic effects of an ASXL3 mutation and a 15q11.2 BP1-BP2 microdeletion in a severe neurodevelopmental phenotype.

Journal: Frontiers in genetics

Published: July 27, 2025

Genetic analysis and prenatal diagnosis of 15q11-q13 microduplication syndrome.

Journal: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians

Published: May 18, 2025

17α-hydroxylase deficiency with a novel CYP17A1 mutation: a case report.

Journal: Translational pediatrics

Published: April 24, 2025

Single-cell analysis of dup15q syndrome reveals developmental and postnatal molecular changes in autism.

Journal: Nature communications

Published: March 26, 2025

Diagnostic contribution of conventional and molecular karyotyping in congenital diaphragmatic hernia related copy number variations.

Journal: Taiwanese journal of obstetrics & gynecology

Published: March 19, 2025

Beyond the bleed: Navigating fetal intraventricular hemorrhage.

Journal: Journal of neonatal-perinatal medicine

Published: February 28, 2025

Unraveling the Genomic Architecture of Supernumerary (Iso-)Dicentric Chromosomes in Dup15q Syndrome: Insight From a Systematic Literature-Based Study.

Journal: American journal of medical genetics. Part A

Published: February 21, 2025

Genetic Alterations in Atypical Cerebral Palsy Identified Through Chromosomal Microarray and Exome Sequencing.

Journal: International journal of molecular sciences

Published: February 06, 2025

Prenatal diagnosis and genetic counselling of monozygotic triplets with paternally inherited chromosome 15q11.2 microdeletion in a Chinese family.

Journal: Taiwanese journal of obstetrics & gynecology

Published: January 13, 2025

Dramatic Response to Neurostimulation in Children With Medically Intractable Epilepsy Related to Pseudoisodicentric Chromosome 15q Duplication: A Case Series.

Journal: Pediatric neurology

Published: January 10, 2025