We report a mother and daughter with features of the velocardiofacial (VCF) syndrome and monosomy for 22q11 identified using molecular techniques. The mother had surgery as a child for a cleft palate and a congenital heart defect, and her facial features were consistent with the diagnosis. The daughter had developmental delay, absent speech, scoliosis, and similar facial features, but no cleft ...

Autosomal recessive KIF1A missense mutations cause hereditary spastic paraplegia (HSP) type SPG30, while recessive truncations lead to sensory and autonomic neuropathy (HSN2C) and many de novo missense mutations are associated with cognitive impairment. Here, we describe family members across three generations with pure HSP. A heterozygous p.Ser69Leu KIF1A mutation segregates with those afflict...

Mutations in the muscle promoter region and exonic deletions were screened in a series of 115 unrelated DMD and BMD patients from north-east Italy. No gross mutations of the promoter region were found. In three cases in which dystrophin of normal size was expressed at low levels, the analysis of DNA sequences of the promoter region failed to detect abnormalities. The majority of deletions in co...

Title: Intrafamilial phenotypic heterogeneity in a Taiwanese family with MAPT p.R5H mutation: a case report and literature review Authors: Hui-Chi Lin ([email protected]) Chin-Hsien Lin ([email protected]) Pei-Lung Chen ([email protected]) Shih-Jung Cheng ([email protected]) Pei-Hao Chen ([email protected]) Version: 3 Date: 11 Sep 2017 Author’s response to reviews: Dear Dr. Tian, We h...

Background: We report a Spanish family, comprising an affected mother and daughter, respectively diagnosed with retinitis pigmentosa Stargardt-like macular dystrophy, in whom we identified PROM1 mutation. Methods: A custom gene panel consisting of 119 inherited retinal dystrophies (IRD)-genes was applied the two individuals this family sequenced using Illumina´s NextSeq500 platform. Results: Th...

Aim Across angiosperm families, the area occupied by a family is strongly correlated with its richness. We explore the causes of this area-richness correlation using the cosmopolitan family, Cyperaceae Juss., as a model. We test the hypothesis that, despite a proposed tropical origin, temperate lineages in the family diversified at elevated rates. We test the hypothesis that the area-richness c...

Over the 10-year period studied, a total of 96 children under 15 years of age were killed in Sweden. This number constituted an average annual rate of 0.6 per 100,000 children. The violence, most frequently involving strangulation, shooting, and stabbing, was largely directed at young children. The pattern of child homicide was mainly characterized by intrafamilial violence, especially in conne...

Shigellosis epidemics were investigated in two urban centers. In each city, preschool children played a major role in O!fecting their families and were most susceptible to secondary infection after illness had been introduced into the household. Children attending day-care centers were significantly more likely to be initial cases and to be the major cause of intrafamilial spread of disease tha...

Abstract The present study analyses the relationship between psychopathic traits, four facets of psychopathy (i.e., interpersonal, affective, lifestyle, and antisocial), type crime committed intrafamilial extrafamilial child sexual abuse; nonsexual crimes). Self-Report Psychopathy Scale – Short Form (SRP-SF) Marlowe-Crowne Social Desirability were completed by 110 male individuals who sexually ...

A procedure of intrafamilial immunization is described for production of antisera recognizing DL-A haplotypes. In a colony consisting of 1 sire, 6 bitches, and 67 offspring all haplotypes could be accurately allocated. In the colony the observed reaction frequencies of the antisera are in agreement with mendelian codominant inheritance. Mixed lymphocyte culture tests confirmed the accuracy of t...