Genetic linkage of hyper-IgE syndrome to chromosome 4

Article Abstract:

Hyper-IgE syndrome (HIES), or Job syndrome, a rare multisystem disorder, a primary immunodeficiency involving pneumonia, recurrent skin abscesses, and very elevated serum IgE levels, is discussed with the information that it is linked to chromosome 4. Nonimmunologic abnormalities of bones, dentition and connective tissue are part of the disorder and it can be transmitted as an autosomal dominant trait with variable espressivity. Nineteen kindreds with multiple cases were scored for laboratory/clinical findings and genotyped with polymorphic markers in a candidate region.

Italy, Israel, Germany, Spain, Statistical Data Included, Usage, Bones, Abnormalities, Physiological aspects, Chromosome mapping, Genetic disorders, Face, Facies (Medicine), Dentition, Immunoglobulin E, Connective tissues, Connective tissue, Musculoskeletal abnormalities

---

Commitment to X inactivation precedes the twinning event in monochorionic MZ twins

Article Abstract:

X-chromosome inactivation in female MZ twin pairs has been studied with the goal of gaining insight into timing of twinning. Patterns of X-inactivation were compared in monochorionic MZ and dichorionic MZ twins. It appears that X-inactivation has no direct role in the process of twinning and that extreme unequal splitting is not usual in twin formation. The degree of skewing, overall, in MZ twins was not found to be significantly different from skewing degree observed in single fetuses.

Belgium, Ontogeny

---

The timing of twinning: more insights from X-inactivation

Article Abstract:

The timing of twinning as it relates to X inactivation is an important variable in twin studies. Exact molecular events in initiation and maintenance of X inactivation are not entirely known. Reports of MZ twins concordant or discordant for expression of genetic phenotypes, and especially female MZ twins in which one suffers from an X-linked recessive phenotype, are analyzed.

Embryology, Animal embryology

Similar abstracts:

• Abstracts: Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS (ital) gene and apparent locus heterogeneity
• Abstracts: A comprehensive linkage analysis of chromosome 21q22 supports prior evidence for a putative bipolar affective disorder locus
• Abstracts: Heterogeneity in world distribution of the thermolabile C677T mutation in 5,10-methylenetetrahydrofolate reductase
• Abstracts: RSH/Smith-Lemli-Opitz syndrome: mutations and metabolic morphogenesis. Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxylbutyric aciduria)

This website is not affiliated with document authors or copyright owners. This page is provided for informational purposes only. Unintentional errors are possible.