Stargardtdisease is themostcommon form of juvenile macular degeneration, with an incidence of 1 in 10 000 persons.Clinically, it ischaracterized by pisciform flecks at the level of the retinal pigment epithelium and a bull’s-eye maculopathy. A variant of Stargardt disease, fundus flavimaculatus, demonstrates a more peripheral distribution of flecks. In 1997, mutations in the ABCA4 gene on chrom...

Basal cell carcinoma is the most common human cancer with increasing incidence reported worldwide. Despite the aberrant signaling role of the Hedgehog pathway, little is known about the genetic mechanisms underlying basal cell carcinomas. Towards a better understanding of global genetic events, we have employed the Affymetrix Mapping 10K single nucleotide polymorphism (SNP) microarray technique...

RATIONALE Uniparental disomy (UPD) gives a description of the inheritance of both homologues of a chromosome pair from the same parent. The consequences of UPD depend on the specific chromosome/segment involved and its parental origin. PATIENT CONCERNS We report prenatal phenotypes of 2 rare cases of UPD. DIAGNOSES The prenatal phenotype of case 1 included sonographic markers such as enlarg...

In species that require parental care, each parent can either care for their offspring or leave them in the care of the other parent. For each parent this creates three possible parental care strategies: biparental care, uniparental (male or female) care, and uniparental desertion by either the male or female. The burying beetle, Nicrophorus orbicollis, typically exhibits biparental care of off...

MATERIALS AND METHODS Fifty-nine PWS patients with the diagnosis confirmed by DNA methylation testing had regular and long term follow up at the Centre for Human Genetics in Leuven. For more then 10 years, these patients have been seen at least once a year by a clinical geneticist and a psychiatrist skilled in the assessment of people with learning disabilities. Detailed information on clinical...

Uniparental disomy (UPD) describes the inheritance of a pair of chromosomes from only one parent, either as both homologues (heterodisomy), as two copies of one homologue (isodisomy), or as a mixture of heterodisomic and isodisomic segments. So far, UPD of whole chromosomes has been described in different clinical cases for most of the human chromosomes, except for maternal UPD(3), (5), (11), (...