OBJECTIVE Arthrogryposis multiplex congenita is a relatively rare neuromuscular syndrome, with a prevalence of 1:3000-5000 newborns. In this study, the authors describe the clinical features of a group of 50 unrelated Mexican patients with arthrogryposis multiplex congenita. METHODS Patients were diagnosed by physical and radiographic examination and the family history was evaluated. RESULT...

Evolution of the bear family Ursidae is well investigated in terms of morphological, paleontological, and genetic features. However, several phylogenetic ambiguities occur within the subfamily Ursinae (the family Ursidae excluding the giant panda and spectacled bear), which may correlate with behavioral traits of female philopatry and male-biased dispersal which form the basis of the observed m...

An interaction between sex-linked inheritance and sex-biased mutation rates may affect the rate of adaptive evolution. Males have much higher mutation rates than females in several vertebrate and plant taxa. When evolutionary rates are limited by the supply of favorable new mutations, then genes will evolve faster when located on sex chromosomes that spend more time in males. For mutations with...

X-linked disorders with cerebellar dysgenesis (XLCD) are a genetically heterogeneous and clinically variable group of disorders in which the hallmark is a cerebellar defect (hypoplasia, atrophy or dysplasia) visible on brain imaging, caused by gene mutations or genomic imbalances on the X-chromosome. The neurological features of XLCD include hypotonia, developmental delay, intellectual disabili...

Congenital nephrogenic diabetes insipidus (NDI) is caused by at least two different genes: the V2 receptor for arginine vasopressin (AVP) in X-linked NDI, and aquaporin-2 (AQP2) in autosomal recessive NDI (1–5). So far, more than 100 mutations have been reported (1, 3, 5, 6). Identification of the mutation of the V2 receptor is useful for early definite diagnosis and an understanding of the pat...

OBJECTIVE To describe the simultaneous occurence of an autosomal dominant inherited MSX1 mutation and an X-linked recessive inherited EDA mutation in one Chinese family with nonsyndromic oligodontia. METHODS Clinical data of characteristics of tooth agenesis were collected. MSX1 and EDA gene mutations were detected in a Chinese family of non-syndromic oligodontia. RESULTS Mild hypodontia in...

Background: Every day, many children are born by assisted reproductive techniques. For some infertile couples have no other way to have a child except donation. So far, there are too many children are born by donation protocols or surrogacy. As in donation protocols and surrogacy, a third party helps the couple by sharing gamete, embryo or uterus, there can be some social, legal and psychologic...

Among different teleost fish species, diverse sex-determining mechanisms exist, including environmental and genetic sex determination, yet chromosomal sex determination with male heterogamety (XY) prevails. Different pairs of autosomes have evolved as sex chromosomes among species in the same genus without evidence for a master sex-determining locus being identical. Models for evolution of Y ch...

Nephrogenic diabetes insipidus is a rare hereditary disorder, most commonly transmitted in an X chromosome-linked recessive manner and characterized by the lack of renal response to the action of antidiuretic hormone [Arg8]vasopressin. The vasopressin type 2 receptor (V2R) has been suggested to be the gene that causes the disease, and its role in disease pathogenesis is supported by mutations w...