A large family (13 affected members in three generations) is reported in which isolated microcephaly occurred without any other dysmorphic or neurological abnormalities. The family pedigree confirms the autosomal dominant mode of inheritance with incomplete penetrance, including one example of male to male transmission and the occurrence of a non-manifesting heterozygote resulting in a 'skipped...

Prenatal presentation of fetal ADPKD is rare, however the disease is seen to present in fetal life also. We realize that ADPKD has varied presentations. It can present as isolated enlarged echogenic kidneys with or without any cystic change in fetal life or any decline in renal function. Their presence in fetal life makes a difficult situation to explain the parents the uncertain risk of progre...

OBJECTIVE The aim of this study is to assess the possible role of autosomal C-band size polymorphism in male infertility. METHODS Two-hundred male patients with clinical diagnosis of infertility and 100 normal controls were included in the present investigation. All patients were assessed by Urologist Consultant at the Department of Pathology and Forensic Medicine, Kufa University, Kufa, Iraq...

Inter-cell cochannel interference (ICCI) is an inherent problem in all cellular systems due the necessity to reuse the same frequencies after a certain reuse distance. In GSM, the fact that the number of nearby cochannel interferers is relatively small leads to a high probability of a dominant interferer (DI). Hence, suppression of DI alone provides substantial capacity improvement for GSM. The...

Autosomal dominant polycystic kidney disease is the most prevalent, potentially lethal, monogenic disorder. It is associated with large interfamilial and intrafamilial variability, which can be explained to a large extent by its genetic heterogeneity and modifier genes. An increased understanding of the disorder's underlying genetic, molecular, and cellular mechanisms and a better appreciation ...

We present a computer program developed for estimating penetrance rates in autosomal dominant diseases by means of family kinship and phenotype information contained within the pedigrees. The program also determines the exact 95% credibility interval for the penetrance estimate. Both executable (PenCalc for Windows) and web versions (PenCalcWeb) of the software are available. The web version en...

AIM To investigate whether gastric myoelectrical activity was impaired in patients with chronic pancreatitis (CP) and to explore the role of pancreatic enzyme in regulating gastric myoelectrical activity. METHODS Twenty CP patients and 20 controls participated in the study. Gastric myoelectrical activity was recorded by a homemade electrogastrography (EGG) device. Two experiments were carried...

Paternity testing is being increasingly requested with the aim of challenging presumptive fatherhood. The ability to establish the biological father is usually based on the genotyping of autosomal short tandem repeat (STR) in alleged father, mother and child, but the use of Y-chromosomal STR has gained interest in the last few years. In this work, we propose a new probabilistic approach that co...

[This corrects the article DOI: 10.1371/journal.pone.0169226.].

hyper-igm syndromes are characterized by profound reduction of serum igg, iga, and ige levels with normal or increased concentrations of serum igm. cd40 ligand deficiency is x-linked form of the disease, which results in a lack of immunoglobulin class switching from igm to igg in b cells. in addition to the recurrent infections, a number of patients suffer from neutropenia. there are some evide...