Chromosome Anomaly Collection Submission Form

This form has been designed for those who wish to contribute further examples of cytogenetically visible abnormalities without phenotypic effect to the Collection. Note that the Collection is concentrating on cases of unbalanced chromosome abnormalitites (UBCAs) without phenotypic effect that have been directly transmitted from parents to children. These should include cases where the proband is abnormal and the parents normal. Further examples of transmitted imbalances with mild phenotypic consequences in both offspring and parents can, nevertheless, be accepted. Details of novel euchromatic variants would also be welcome.

Information is required as follows:

1. Karyotype including identity of chromosome(s) involved and the extent of the imbalance(s).
2. Details of how the imbalance has been investigated and confirmed using fluorescence in situ hybridisation (FISH), array CGH, molecular genetic analysis or other techniques.
3. The mode of ascertainment including full details of the reason(s) for which the family were first referred.
4. A pedigree from which the mode of transmission and number of carriers can be determined.
5. Reference to any poster or paper which has already included the submitted family.
6. The identity of the contributing genetic centre and a responsible contact individual.
7. Consent from a representative member of the family to include these details on the Register anonymously.
8. Wherever possible, the proband, parents and chromosomally normal members of the family should have been examined by a clinical geneticist or physician with special training in genetic conditions.


Submission

This is not an on-line submission form, but you can copy the questions from this page and paste them into an e-mail or text editing program (e.g.Word), and then email, post or fax the submission to:

Dr John Barber
National Genetics Reference Laboratory (Wessex)                                                                                        
Salisbury District Hospital
Salisbury NHS Foundation Trust
Salisbury
SP2 8BJ
UK
Tel: +44 (0)1722 429080
Fax: +44 (0)1722 338095
e-mail:
john.barber@salisbury.nhs.uk


Note:
this Collection will remain anonymous but the compiler will be glad to re-direct enquiries about a particular family to the contributing genetic centre if appropriate.

 

Submission Form

National Genetics Reference Laboratory (Wessex)
Salisbury District Hospital
Salisbury