Lachlan, Dr Katherine

MBChB, MRCPCH

Speciality

Clinical Genetics

Training and Education

Manchester University Graduated 1998

Experience

Dr Lachlan has worked for Southampton University Hospitals Trust since August 2007. 

East Anglian Paediatric Rotation
Clinical Genetics Specialist Registrar in Wessex Region

Key achievements

Sex Chromosome Trisomies Study Began July 2007 to run for two years. Funded by Birth Defects New Life charity (£78,124). Collaboration with Clinical Genetics colleagues nationally and the Psychology department at the University of Oxford.
"PTEN Related Disorders Study" Funded by Birth Defects New Life charity (£9500). This was my major research project as a Specialist Registrar and I am continuing to write up the results for publication in peer-reviewed journals

 

Research

Lachlan KL, Lucassen AM, Bunyan DJ, Temple IK. Cowden Syndrome and Bannayan-Riley-Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: a clinical study of 42 individuals with PTEN mutations. J Med Genet. 2007 44: 579-585

Lachlan KL, Youings S, Costa T, Jacobs PA, Thomas NS. A clinical and molecular study of 26 females with Xp deletions with special emphasis on inherited deletions. Hum Genet 2006 118:640-51

Lachlan KL, Collinson MN, Sandford ROC , van Zyl B, Jacobs PA, Thomas NS Functional disomy resulting from duplications of distal Xq in four unrelated patients. Hum Genet 2004 115:399-408