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Ocular Manifestations of Pallister-Killian Syndrome.
Ophthalmol Retina
November 2024
Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
Pallister-Killian Syndrome.
Neoreviews
November 2024
Fetal and Pregnancy Health Program, Lucile Packard Children's Hospital, Stanford Medicine Children's Health, Palo Alto, CA.
Human Genetics of Ventricular Septal Defect.
Adv Exp Med Biol
June 2024
Cardiovascular Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Article Synopsis
- Ventricular septal defects (VSDs) are common congenital heart diseases, making up about 40% of cardiac malformations and can occur alone or with other defects.
- The genetic causes of VSD are complex, involving chromosomal abnormalities and gene mutations, including known syndromes like DiGeorge and Holt-Oram.
- Recent advancements like comparative genomic hybridization have revealed numerous copy number variations linked to VSD, highlighting the genetic diversity in affected patients.
Defining the cellular origin of seminoma by transcriptional and epigenetic mapping to the normal human germline.
Cell Rep
June 2024
Department of Biomedical Sciences, University of Pennsylvania School of Veterinary Medicine, 3800 Spruce Street, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, 3400 Spruce Street, Philadelphia, PA 19104, USA; Institute for Regenerative Medicine, University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA 19104, USA. Electronic address:
Article Synopsis
- Aberrant male germline development can cause a type of cancer called seminoma, which is a tumor in the testicles.
- Seminomas are similar to early-stage germ cells and often have an extra piece of chromosome 12.
- Researchers are studying seminomas using special cells from patients to understand what causes this cancer and how it forms, since there aren't any mouse models to help with this research.
Pineocytoma in a child with Pallister-Killian syndrome: a case report and review of the literature.
Childs Nerv Syst
August 2024
Pediatric Neurosurgery Unit, Department of Pediatric Neurosciences, Santobono-Pausilipon Children's Hospital, Naples, Italy.
Pallister-Killian syndrome (PKS; OMIM #601803) is a rare genetic disorder typically characterized by developmental delay, seizures, sparse temporal hair, and facial dysmorphisms. PKS is most frequently caused by mosaic supernumerary isochromosome 12p. Here, we report a 27-month-old girl with a prenatal diagnosis of PKS and a histopathological diagnosis of pineocytoma.
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