neuromuscular disorders (nmds) include a broad range of diseases affecting muscles, nerves and neuromuscular junctions. approximately 761 different disorders occur in this group which is subdivided into 16 different subgroups with 406 known genes. nmds are genetically and clinically heterogeneous conditions. the advent of next generation sequencing (ngs) approaches has accelerated the pace of d...

Spontaneous abortion (SAb) is the most common complication of early pregnancy. Numerous risk factors are associated with an increased risk of pregnancy loss such as: Blighted ovum. The aim of this study was to determine the frequency of balanced chromosomal translocations in couples with a history of recurrent spontaneous abortions and ultrasound diagnosed blighted ovum. Sixty Eight couples wit...

spontaneous abortion (sab) is the most common complication of early pregnancy. numerous risk factors are associated with an increased risk of pregnancy loss such as: blighted ovum. the aim of this study was to determine the frequency of balanced chromosomal translocations in couples with a history of recurrent spontaneous abortions and ultrasound diagnosed blighted ovum. sixty eight couples wit...

A total of 26 554 Egyptians was ascertained to study the incidence of consanguineous marriages. They were of different ages, different socioeconomic standards, and from different areas. There were 7646 from urban areas, 11 280 from suburban areas, and 7628 from rural areas. The incidence of consanguineous matings in the general population was found to be 28.96% with an average inbreeding coeffi...

Background: The previous studies carried out for STK39 revealed its association with EHTN, but the models of inheritance were not studied. Aims & Objective: We studied the SNP rs35929607 of STK39 in a Pakistani population on the subjects from consanguineous and non-consanguineous populations and looked at the inheritance patterns in both cohorts. Materials and Methods: This was cross sectional,...

Spontaneous abortion (SAb) is the most common complication of early pregnancy. Numerous risk factors are associated with an increased risk of pregnancy loss such as: Blighted ovum. The aim of this study was to determine the frequency of balanced chromosomal translocations in couples with a history of recurrent spontaneous abortions and ultrasound diagnosed blighted ovum. Sixty Eight couples wit...

Inbreeding is usually defined as the mating between relatives and the progeny that result of a consanguineous mating between two related individuals is said to be inbred (CavalliSforza & Bodmer, 1971; Hedrick, 2005; Vogel & Motulsky, 1997). As a result of inheriting the same chromosomal segment through both parents, who inherited it from a common ancestor, the individuals born of consanguineous...