PT - JOURNAL ARTICLE AU - Brown, K A AU - al-Gazali, L I AU - Moynihan, L M AU - Lench, N J AU - Markham, A F AU - Mueller, R F TI - Genetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1. AID - 10.1136/jmg.34.8.685 DP - 1997 Aug 01 TA - Journal of Medical Genetics PG - 685--687 VI - 34 IP - 8 4099 - http://jmg.bmj.com/content/34/8/685.short 4100 - http://jmg.bmj.com/content/34/8/685.full SO - J Med Genet1997 Aug 01; 34 AB - Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive disorder characterised by the presence of myotonia with a mask-like face, skeletal dysplasia, and growth retardation. Two types have been defined by the age of manifestation of the symptoms. Linkage of Schwartz-Jampel syndrome to human chromosome 1p34-p36.1 has been shown in families where probands presented during infancy or early childhood. We have investigated two well documented families segregating severe neonatal SJS with microsatellite markers spanning the critical region of 1p34-p36. No demonstrable linkage to chromosome 1 was found in either family, suggesting that a second locus is responsible for the severe form of neonatal Schwartz-Jampel syndrome.