A locus for autosomal recessive congenital microphthalmia maps to chromosome 14q32

Article Abstract:

A gene associated with isolated congenital microphthalmia (CMIC) has been mapped to chromosome 14q32, probably between markers D14S987 and D14S267. The condition is inherited as an autosomal recessive trait in a five-generation consanguineous family from Pakistan with six affected members living. Over 150 polymorphic markers were typed for 16 family members, and homozygosity mapping was carried out.

User Contributions:

Comment about this article or add new information about this topic:

Comment:  (50-4000 characters)

Name:

E-mail:

Security Code:

Childhood absence epilepsy with tonic-clonic seizures and electroencephalogram 3-4-Hz spike and multispike-slow wave complexes: linkage to chromosome 8q24

Article Abstract:

Research on a family from India has linked childhood absence epilepsy (CAE) to a specific chromosome using electroencephalogram spike and wave complexes. CAE with tonic-clonic seizures was studied using model-free affected-pedigree member methodology and two-point linkage analysis. Clinical and electroencephalographic traits implicated chromosome 8q24, assuming autosomal dominant inheritance.

User Contributions:

Comment about this article or add new information about this topic:

Comment:  (50-4000 characters)

Name:

E-mail:

Security Code:

Chromosome 21 disomy in the spermatozoa of the fathers of children with trisomy 21, in a population with a high prevalence of Down syndrome: increased incidence in cases of paternal origin

Article Abstract:

Epidemiological research of Down's syndrome in the Spanish city of El Valles revealed a rise in disomy in cases of paternal origin. While most fathers of Down's syndrome children did not have a significant difference in chromosome 21 disomy from the control population, a large increase was discovered in the fathers of children whose syndrome was of paternal origin.

User Contributions:

Comment about this article or add new information about this topic:

Comment:  (50-4000 characters)

Name:

E-mail:

Security Code: