Annie

Our daughter Annie, born in 1990, has a chromosome deletion on Chromosome 1, the upper arm. It is this deletion that is the cause of Annie’s mental handicap.

So far, Annie is the first one in the world known to have this particular chromosome profile and deletion. Which is why it has been named ‘Annie’s syndrome’ (in agreement with Annie).

Rectangle 59.png — **“ 25 genes, out of 22,000,**
**are missing ”**

Annie’s Syndrome

25 genes, out of 22,000, are missing. The next step in the scientific investigation is to establish the functions of the missing 25 genes. However, the experts need time and improved technology to provide the answers to these questions. We will update you 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.

The code for Annie’s array CGH analysis is:

46, XX, arr cgh 1p31.1->1p31.3 (RP4-759M20->RP11-261J10) x 1

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

In depth article on ‘Annie’s syndrome’ published in ACNR – Advances in Clinical Neuroscience and Rehabilitation

Download article

Annie’s Cool Art

Annie is an amazing artist; she works in clay as well as on canvas and/or on paper. Her wonderful ‘Aliens’ can be found in any of the hundreds of notebooks that she has filled through the years.

Her pieces, paintings and drawings all have the most intriguing titles.

Welcome to Annie’s Cool Art Gallery