Cytogenetic analysis of a 4 year old girl with developmental delay and dysmorphic features showed extra chromosomal material of unknown origin on 20p (46,XX,add(20)(p13)). Familial chromosome studies showed direct inheritance of add(20)(p13) from the father, who had a similar, albeit milder, phenotype. Fibroblast chromosome studies of the father showed no karyotype mosaicism. The additional mat...

Incest is a neglected and hidden public health problem. This case is about a patient who was victim of sexual abuse, suffered from schizophrenia and abused his biological daughter. He was physically and sexually abused by seniors and classmates, developed paranoid delusion and auditory hallucination. During the course of the illness, he was hospitalized several times as a case of schizophrenia ...

Volume 91, Number 2 www.aafp.org/afp American Family Physician 125 Case Scenario My patient’s wife died of pancreatic adenocarcinoma at 35 years of age. After her death, her doctor told my patient that their child might be at increased risk of developing pancreatic cancer. My patient asked if pancreatic screening and genetic testing were available for his eight-year-old daughter. He was referre...

PURPOSE Mutations in tetraspanin 12 (TSPAN12) have recently been identified as a cause of autosomal dominant familial exudative vitreoretinopathy (FEVR). The purpose of this study was to detect TSPAN12 mutations in Chinese patients with FEVR and to describe the associated phenotypes. METHODS Sanger sequencing was used to analyze the seven coding exons and their adjacent regions of TSPAN12 in ...

The relation between rejection and depression was examined in the context of college students’ relationships with their parents. Female college students (n = 183) provided selfreports of how rejected they felt by their parents, and parents provided self-reports of how rejecting they were of their daughters. In father–daughter dyads, we found that fathers’ reports of rejection moderated the rela...

BACKGROUND Familial hypercholesterolemia is an autosomal dominant disorder, caused by mutation in Low-density lipoprotein receptor (LDL-R) gene. METHODS Cross-sectional study conducted to recruit the population of Karachi-Pakistan, screened for familial hypercholesterolemia. A total of 1523 hypercholesterolemic individuals have taken part in the study, five were found to be familial hyperchol...