Our daughter, Annie, has a chromosome deletion on Chromosome 1, the upper arm. This deletion is the cause of Annie’s ‘mild mental handicap’.
The code for Annie's array CGH analysis is:
46, XX, arr cgh 1p31.1->1p31.3 (RP4-759M20->RP11-261J10) x 1
So far, Annie is the first one in the world known to have this particular chromosome deletion. 21 genes, out of 22,000, are missing. The next step in the scientific investigation is to establish the functions of the missing 21 genes. However, the experts need time and improved technology to provide the answers to these questions. We will keep you posted as soon as there are further scientific breakthroughs.
We hope that by publicising Annie’s case, with her permission, we will be able to identify other ‘Annies’ out there, thus creating a syndrome that will help affected families with an informed diagnosis and an insightful frame of reference.
Annie’s medical report, including a special letter written by professors Christopher Gillberg and David FitzPatrick, was published in ACNR (Advances in Clinical Neuroscience and Rehabilitation) in July 2010. Download the article here.
All Annie’s details are registered with the excellent UNIQUE, a rare chromosome disorder support group. UNIQUE holds a global database on all known chromosome disorders. For more information, visit www.rarechromo.org
Sophie & Robin Dow
1990 – Annie born at UCH, London
1994 – At 3 years and 4 months, Annie was diagnosed with a ‘mild mental handicap’.
1995-1997 – After two years of assessments by experts at the Royal Sick Children’s Hospital, Edinburgh, her diagnosis was ’brain damage that occurred during pregnancy’.
2003 – We contacted Christopher Gillberg, professor of Child and Adolescent Psychiatry at Gothenburg University and University of Glasgow. Prof Gillberg and his team assessed Annie but could not give a specific diagnosis. He suggested we look for a possible chromosome disorder.
2003 – David FitzPatrick, professor of Clinical Genetics, MRC Human Genetics Group, Edinburgh, tested Annie for FISH 22q11.2 (Catch 22). The result was negative. Prof FitzPatrick suggested keeping Annie’s blood sample and wait for better technology. We agreed.
2007 – Prof FitzPatrick used a new test technique called Array CGH and discovered that Annie had a deletion of 21 genes on Chromosome 1, the upper arm.
18 July 2007 – We received a letter from Prof FitzPatrick informing us of Annie’s chromosome deletion.