Auckland, New Zealand
Auckland, New Zealand

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Marquis-Nicholson R.,Auckland City Hospital | Aftimos S.,Northern Regional Genetic Service | Hayes I.,Northern Regional Genetic Service | George A.,Auckland City Hospital | And 2 more authors.
New Zealand Medical Journal | Year: 2010

The traditional understanding of genetic disease, that, with the exception of aneuploidy, it is due primarily to single base pair changes or small deletions and duplications has been challenged over the last decade. This challenge has been spearheaded by increasing evidence of the frequency and significance of larger genomic rearrangements. It now appears that a substantial proportion of Mendelian conditions are caused by deletions and duplications that involve the copy number of one or more contiguous genes. It is becoming apparent too that de novo chromosomal events are much more frequent than spontaneous point mutations and that chromosomal rearrangement is likely to account for the vast majority of sporadic disease. ©NZMA.


Lange I.R.,University of Calgary | Stone P.,University of Auckland | Aftimos S.,Northern Regional Genetic Service
Journal of Obstetrics and Gynaecology Canada | Year: 2010

Background: Prenatal ultrasound has afforded insights into many structural and syndromic fetal disorders. In this report, the ultrasound findings were of assistance when counselling a patient who presented with a history of Coffin-Lowry syndrome (CLS). Case: A 39-year-old woman presented in the third trimester of pregnancy asking whether CLS could be diagnosed in utero. Three of her male offspring had been found to have this syndrome in childhood. Ultrasound assessment of the fetus was able to confirm female sex, which provided direction for counselling. An additional finding was of short and stubby digits, which have been well described as part of this syndrome. This information provided direction for pediatric management. Conclusion: CLS is a rare syndrome that is typically diagnosed in childhood. To our knowledge, this is the first report of a case in which prenatal ultrasound provided assistance for counselling before delivery. © 2010 Society of Obstetricians and Gynaecologists of Canada.

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