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...are arranged as a ‘mirror image’ of each other. Isochromosome formation involves a chromosome duplication and deletion. The extra arm in the new chromosome is a duplication and the arm...
READ MORE >...pregnant and have received a prenatal diagnosisA family member has the conditionOther (please specify) Email Phone Address Town/City County/State/Province Postcode/Zip Country Chromosome/gene and type of disorder e.g. deletion, duplication, variant...
READ MORE >...and the University of Manchester and we are interested in the experiences of children with 16p11.2 deletion or duplication and 22q11.2 deletion or duplication. This study will enable us to...
READ MORE >...with 3q29 deletion or duplication About our study We are a research team based across University College London and Cardiff University and we are interested in the experiences of individuals...
READ MORE >...2p16.3 (NRXN1)deletion, 3q29 deletion or duplication, 9q34 deletion (EHMT1), 15q11.2 deletion or duplication, 15q13.3 (CHRNA7) deletion or duplication, 15q11-q13 deletion or duplication, 16p11.2 deletion or duplication, 22q11.2 deletion or duplication...
READ MORE >Take part in research from home! If you are a parent or caregiver of a child aged 3-14 years old with: Sotos syndrome Tatton-Brown Rahman syndrome 16p11.2 duplication syndrome 16p11.2...
READ MORE >Just published and available free of charge, Information Guides to: 8p inverted duplication and deletion – click here to read and download 15q11.2 microduplications – click here Further Education, Training...
READ MORE >Meet Lucy and her Mum, Martina! Lucy has a 10q26.3 deletion and 2q35 duplication. Martina says, “Lucy is an absolute joy. She is a wonderful little girl. She is so...
READ MORE >...inverted duplication 15pterq14 (more widely known as isodicentric or idic 15). In 1996 (pre-internet) I became Information Officer for the group, hand-writing letters to newly joining families; at that time...
READ MORE >I initially became involved with Unique shortly after my second daughter, India, was diagnosed with an unbalanced translocation (duplication 18q21.1 to qter, deletion 18p11.32). At the time she was three...
READ MORE >...and Julie have a partial duplication of short arm of chromosome 9. Claire, who is Jack’s mum, has a balanced insertional translocation like myself. Wendy is 58, she attends a...
READ MORE >My son Max has a duplication 9p23.1p13 and deletion 9p23.1p23.3) and I also have a younger daughter. Unique changed our lives when we were told shortly after his birth of...
READ MORE >...was born with an unbalanced translocation (deletion 10p13pter/duplication 5q35.2qter) and I discovered that I carry a 5q;10p balanced reciprocaltranslocation. I contacted Edna and was met with great kindness and patience....
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