When a variety of effects are consistently produced, these are termed a syndrome. It is not unusual for one feature of a syndrome to be regularly expressed while the others are less so. This is the case for the dominant white syndrome. This is conventionally interpreted as variable expression of the syndrome. Simply put, the mildly-affected cat would have a white coat but normal eye colour and ...

We report a patient with cat eye syndrome and interrupted aortic arch type B, a typical finding in the 22q11.2 deletion syndrome. Chromosomal analysis and fluorescent in situ hybridization (FISH) showed a supernumerary bisatellited isodicentric marker chromosome derived from chromosome 22. The segment from 22pter to 22q11.2 in the supernumerary chromosome found in our patient does not overlap w...

associated with advanced parental age' and may arise from unequal crossing over during gametogenesis. We are unaware of any instance ofrecurrence or inheritance of an autosomal direct duplication. Two inherited duplications of the X chromosome have been reported, but with minor or no physical effects in the carrier females.2 3The risk of recurrence is probably low but unknown and therefore ante...

The cat eye syndrome (CES), usually ascribed to the presence of a deleted supernumerary 22 chromosome, is characterised by a typical clinical picture including anal atresia, ocular coloboma, preauricular tags or sinuses, congenital heart defects, urinary tracts anomalies, and mental and physical retardation. An analysis of published reports revealed that of the 57 reported cases, only 21 showed...

purpose: to investigate tear function in acne vulgaris patients who were treated with isotretinoin (accutane). methods: in this prospective clinical study, patients who were scheduled for isotretinoin (accutane) therapy for two months underwent complete eye examination.the best corrected visual acuity measurement, careful slit lamp examination of anterior segment, evaluation of break-up-time an...

purpose: to report a case of duane's retraction syndrome with dry eye. patient and findings: an 18-year-old girl presented with chief complaint of limited abduction in her right eye. best corrected visual acuity was od: 8/10 and os: 9/10. ocular motility examination revealed severe abduction limitation (-4), mild adduction limitation (-1), and moderate upshoot and mild downshoot in the rig...

Abstract Background The deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessively inherited disease resulting from loss‐of‐function mutations in ADA2, formerly named CECR1 (cat eye syndrome chromosome region, candidate 1) gene. Disease manifestations could be separated into three major phenotypes: inflammatory/vascular, immune dysregulatory, and hematologic; however, most patients...

PURPOSE OF REVIEW Next-generation sequencing is revolutionizing the molecular taxonomy of human disease. Recent studies of patients with unexplained autoinflammatory disorders reveal germline genetic mutations that target important regulators of innate immunity. RECENT FINDINGS Whole-exome analyses of previously undiagnosed patients have catalyzed the recognition of two new disease genes. Fir...

In 2000, Schroevers and colleagues examined the reliability and validity of a two-factor structure for the Dutch version of the Center for Epidemiologic Studies-Depression (CES-D) scale in cancer patients and in a community sample. The authors concluded that a two-factor structure assessing Positive Affect (PA) and Depressed Affect was a better fit to the data than the standard four-factor stru...