Linkage analysis localises a Kartagener syndrome gene to a 3.5 cM region on chromosome 15q24-25

Chromosome 15q24 microdeletion syndrome

Chromosome 15q24 microdeletion syndrome is a recently described rare microdeletion syndrome that has been reported in 19 individuals. It is characterized by growth retardation, intellectual disability, and distinct facial features including long face with high anterior hairline, hypertelorism, epicanthal folds, downslanting palpebral fissures, sparse and broad medial eyebrows, broad and/or depr...

Localisation of a gene causing endocrine neoplasia to a 4 cM region on chromosome 1p35-p36.

The development of some endocrine tumours, such as medullary thyroid carcinomas, phaeochromocytomas, anterior pituitary adenomas, and parathyroid adenomas involve a putative tumour suppressor gene located on chromosome 1p32-pter, a region that represents 111 cM. In order to refine the location of this gene, 93 endocrine tumours (39 parathyroid adenomas, 40 anterior pituitary adenomas, seven pan...

Linkage of Parkinson’s disease in two very early onset siblings to a locus on chromosome 1

Parkinson’s disease (PD) is a prevalent neurodegenerative disease that usually affects individuals over 50 years of age. Age at onset in a small subset of PD cases is considerably lower, and these are considered early-onset PD (EOPD) patients. Most PD cases appear sporadic, but approximately 15% are familial, and some of the familial cases exhibit Mendelian inheritance. Genetic analysis of fami...

A Case Report of Kartagener Syndrome

Primary Ciliary Dyskinesia (PCD) and Kartagener Syndrome (KS) are rare genetic disorders. PCD occurs in patients with recurrent sino-pulmonary infection, dextrocardia, chronic vasomotor rhinitis, and bronchiectasis. This study reports a rare case of KS for having further awareness of this disease. According to this study, this disease should be considered in patients with recurrent respiratory ...

The Gene for Pendred Syndrome Is Located between D7S501 and D7S692 in a 1.7-cM Region on Chromosome 7q