PT  - JOURNAL ARTICLE
AU  - C Eng
AU  - V Murday
AU  - S Seal
AU  - S Mohammed
AU  - S V Hodgson
AU  - M A Chaudary
AU  - I S Fentiman
AU  - B A Ponder
AU  - R A Eeles
TI  - Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy?
AID  - 10.1136/jmg.31.6.458
DP  - 1994 Jun 01
TA  - Journal of Medical Genetics
PG  - 458--461
VI  - 31
IP  - 6
4099  - http://jmg.bmj.com/content/31/6/458.short
4100  - http://jmg.bmj.com/content/31/6/458.full
SO  - J Med Genet1994 Jun 01; 31
AB  - Cowden syndrome is an autosomal dominant condition of multiple hamartomas. Patients with this phakomatosis have an increased risk of breast cancer and thyroid tumours. Lhermitte-Duclos disease is usually a sporadic condition of cerebellar ganglion cell hypertrophy, ataxia, mental retardation, and self-limited seizure disorder. We describe a three generation family with Cowden syndrome and Lhermitte-Duclos disease. Karyotyping performed on the peripheral lymphocytes of the proband and her affected mother showed a 46,XX complement. Single strand conformational polymorphism analysis failed to show any germline p53 mutations as a cause of the syndrome in this family.