Mapping of primary congenital lymphedema to the 5q35.3 region

Article Abstract:

Primary congenital lymphedema (PCL), or Milroy disease or hereditary lymphedema type I, has been mapped to the 5q35.3 region. A genomewide search has been done using a 4-generation Irish-descent family in North America with dominantly inherited PCL. Four additional British families were studied and linkage to markers from the 5q35.3 region in the five families was achieved. Four unaffected subjects were carriers; the estimated penetrance ratio for PCL is .84. Several mapped genes in the 5q35 region are potentially involved in PCL etiology.

United Kingdom, Lymphedema

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A new locus for autosomal dominant Stargardt-like disease maps to chromosome 4

Article Abstract:

A new locus for autosomal dominant Stargardt-like disease (STGD) is at STGD4. STGD is the most common hereditary macular dystrophy and is most commonly inherited as an autosomal recessive trait. In many families features of the disease are transmitted in an autosomal dominant fashion. A recessive locus has been identified on chromosome 1p. A kindred with autosomal dominant Stargardt-like phenotype has been described and a genomewide search carried out. The search showed a locus on chromosome 4p.

U.S. Virgin Islands, Abnormalities, Retina, Vision disorders, United States Virgin Islands

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