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

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

Anomalous Origin of the Right Coronary Artery From Pulmonary Trunk in a Hypoplastic Left Heart Syndrome With 15q11.2 BP1-BP2 Microdeletion: A Novel Association.

Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society

Published: December 18, 2024

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

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

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

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

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

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

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

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

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

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

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

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

Beyond the bleed: Navigating fetal intraventricular hemorrhage.

Beyond the bleed: Navigating fetal intraventricular hemorrhage.

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

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

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

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

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

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

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

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

Anomalous Origin of the Right Coronary Artery From Pulmonary Trunk in a Hypoplastic Left Heart Syndrome With 15q11.2 BP1-BP2 Microdeletion: A Novel Association.

Anomalous Origin of the Right Coronary Artery From Pulmonary Trunk in a Hypoplastic Left Heart Syndrome With 15q11.2 BP1-BP2 Microdeletion: A Novel Association.