lamellar ichthyosis is one form of congenital autosomal recessive ichthyosis. to date, seven causative genes for arci have been identified. to understand further the genetic spectrum of the disease, we analyzed a four-generation iranian family with arci that had observable inheritance. exome sequencing data for one of the affected individuals with ichthyosis from a consanguineous iranian family...

Patterns of sex chromosome segregation in six homozygous males of the common shrew (Sorex araneus LINNAEUS, 1758) belonging to two chromosomal races, as well as in 16 interracial hybrids were studied. Based on their karyotypes the hybrids can be subdivided into two groups: (a) complex heterozygotes, which form meiotic quadrivalents in chain and chain + ring configurations, and (b) complex heter...

A child with developmental and language delay was found to be homozygous for a pericentric inversion of chromosome 4 (inv(4) (p15 X 2q12)). Her normal mother and aunt are inversion heterozygotes. It is suggested that the phenotypic abnormalities may have resulted from damage at chromosomal breakpoints or from a position effect which is expressed only in homozygous form.

Background: Preimplantation genetic diagnosis - PGD is currently an established procedure allowing genetic research of oocyte or embryo before implantation to the uterus. Spinal muscular atrophy (SMA) is a neurodegenerative disorder, being the second most common lethal autosomal recessive disease in Caucasians, after cystic fibrosis. There are three clinically different types of which type I (W...

Mutation analysis was performed for two HFE mutations (C282Y, H63D) in unrelated patients with hereditary haemochromatosis (n = 92), family members of patients (n = 34), and unrelated controls (n = 157) from Northern Germany, 87/92 patients (94.6%) revealed the C282Y mutation in homozygous form, five were heterozygous. No H63D mutation was found in 174 chromosomes of patients homozygous for C28...