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Four families, each with two individuals affected by Rett Syndrome (RS), were analysed using restriction fragment length polymorphisms and microsatellite markers from the X chromosome. In two of the families, X-linked dominant inheritance of the RS defect from a germinally mosaic mother could be assumed. Therefore, maternal X chromosome markers showing discordant inheritance were used to exclude regions of the X chromosome as locations of the RS gene. Much of the short arm could be excluded, including regions containing three candidate genes, OTC, synapsin 1 and synaptophysin. Although most of the long arm was inherited in common it was possible to exclude a centromeric region. Inheritance of X chromosome markers is also presented for two families with affected aunt-niece pairs, one of which has not been previously studied at the DNA level.
A R Curtis, and
S Headland, and
S Lindsay, and
N S Thomas, and
E Boye, and
S Kamakari, and
P Roustan, and
M Anvret, and
J Wahlstrom, and
G McCarthy
May 1994,
Clinical genetics,
A R Curtis, and
S Headland, and
S Lindsay, and
N S Thomas, and
E Boye, and
S Kamakari, and
P Roustan, and
M Anvret, and
J Wahlstrom, and
G McCarthy
April 1995,
American journal of medical genetics,
A R Curtis, and
S Headland, and
S Lindsay, and
N S Thomas, and
E Boye, and
S Kamakari, and
P Roustan, and
M Anvret, and
J Wahlstrom, and
G McCarthy
January 1990,
Brain & development,
A R Curtis, and
S Headland, and
S Lindsay, and
N S Thomas, and
E Boye, and
S Kamakari, and
P Roustan, and
M Anvret, and
J Wahlstrom, and
G McCarthy
March 1998,
Human genetics,
A R Curtis, and
S Headland, and
S Lindsay, and
N S Thomas, and
E Boye, and
S Kamakari, and
P Roustan, and
M Anvret, and
J Wahlstrom, and
G McCarthy
June 1991,
American journal of human genetics,
A R Curtis, and
S Headland, and
S Lindsay, and
N S Thomas, and
E Boye, and
S Kamakari, and
P Roustan, and
M Anvret, and
J Wahlstrom, and
G McCarthy
February 1992,
American journal of human genetics,
A R Curtis, and
S Headland, and
S Lindsay, and
N S Thomas, and
E Boye, and
S Kamakari, and
P Roustan, and
M Anvret, and
J Wahlstrom, and
G McCarthy
August 2002,
American journal of medical genetics,
A R Curtis, and
S Headland, and
S Lindsay, and
N S Thomas, and
E Boye, and
S Kamakari, and
P Roustan, and
M Anvret, and
J Wahlstrom, and
G McCarthy
January 1986,
American journal of medical genetics. Supplement,
A R Curtis, and
S Headland, and
S Lindsay, and
N S Thomas, and
E Boye, and
S Kamakari, and
P Roustan, and
M Anvret, and
J Wahlstrom, and
G McCarthy
January 1995,
Indian journal of pediatrics,
A R Curtis, and
S Headland, and
S Lindsay, and
N S Thomas, and
E Boye, and
S Kamakari, and
P Roustan, and
M Anvret, and
J Wahlstrom, and
G McCarthy
April 1995,
Journal of intellectual disability research : JIDR,
