Results 21 to 30 of about 1,020 (134)
First description of co-occurrence of 49,XXXXY and X-linked Cornelia de Lange syndrome: case report [PDF]
Frontiers in Endocrinology49,XXXXY is a rare sex chromosome aneuploidy with an estimated incidence of 1 in 85,000–100,000 newborn males. Individuals with this syndrome exhibit variable clinical manifestations, typically including developmental delay, intellectual deficits ...
Sumaiya Al-Rashdi +11 more
doaj +2 more sources
A Prenatal Diagnosis of Verheij Syndrome in a Fetus Harboring a de novo PUF60 Variant [PDF]
Clinical Case Reports, Volume 13, Issue 10, October 2025.Here, we report the case of a fetus affected by multiple congenital anomalies (MCA) syndrome detected during the second trimester through ultrasound scan, in which a de novo pathogenetic variant in the PUF60 gene (NM_078480.3:c.382_383del; p.Met128ValfsTer11) was identified by trio‐based exome sequencing.
Catia Mio +8 more
wiley +2 more sources
Identification of De Novo Chromosomal Translocations Disrupting NIPBL in a Patient With Cornelia de Lange Syndrome by Full Genome Analysis [PDF]
Molecular Genetics &Genomic Medicine, Volume 13, Issue 6, June 2025.Full‐genome analysis, combining optical genome mapping and linked‐read sequencing, identified two de novo translocations on chromosome 5 disrupting the NIPBL gene in a patient with Cornelia de Lange Syndrome (CdLS). Phasing studies clarified the parental origins, highlighting the diagnostic power of advanced genomic tools for rare disorders.
Hsiao‐Jung Kao +8 more
wiley +2 more sources
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype [PDF]
Nature CommunicationsThe role of the cohesin complex depends on the cohesin loader proteins NIPBL and MAU2. While NIPBL variants are a major cause of Cornelia de Lange Syndrome (CdLS), the role of MAU2 in disease is unclear.
Ilaria Parenti +55 more
doaj +2 more sources
Audiological profile of individuals with Cornelia de Lange syndrome: an integrative review [PDF]
Revista CEFAC, 2022 Purpose: to describe the audiological profile of patients with Cornelia de Lange syndrome (CdLS) in an integrative review of the literature. Methods: after developing the research question, articles were searched in six databases (EMBASE, ISI of ...
Nayara Pereira Santos +3 more
doaj +1 more source
Diagnostics, 2021 Cornelia de Lange syndrome (CDLS) is caused by pathogenic variants in genes which are structural or regulatory components of the cohesin complex. The classical Cornelia de Lange (CDLS) phenotype is characterized by distinctive facial features, growth ...
Anca Maria Panaitescu +6 more
doaj +1 more source
High rate of autonomic neuropathy in Cornelia de Lange Syndrome
Orphanet Journal of Rare Diseases, 2021 Background Cornelia de Lange Syndrome (CdLS) is a rare congenital disorder characterized by typical facial features, growth failure, limb abnormalities, and gastroesophageal dysfunction that may be caused by mutations in several genes that disrupt gene ...
M. J. Pablo +14 more
doaj +1 more source
Nature Communications, 2021 Patients with Cornelia de Lange Syndrome (CdLS) often have mutations in cohesin and its regulators; however, the molecular mechanism driving CdLS phenotypes is not well established.
Patricia Garcia +15 more
doaj +1 more source
Nature Communications, 2021 A feature of cohesin mutations in patients with Cornelia de Lange Syndrome (CdLS) is intellectual disability, but the underlying mechanisms have remained obscure.
Felix D. Weiss +11 more
doaj +1 more source
Dental Management of Cornelia de Lange Syndrome: A Rare Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2015 Cornelia de Lange syndrome (CdLS) is a rare, multiple congenital defect often called as Amsterdam dwarfism. The physical phenotype of CdLS includes low birth body weight, short stature and facio-cranial dysmorphia. The diagnosis of the syndrome is based
Meera Sandhu +3 more
doaj +1 more source