Chromosome Anomaly Collection
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
2. Details of how the imbalance has been investigated and confirmed using fluorescence
in situ hybridisation (FISH), array CGH, molecular genetic analysis or other
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
5. Reference to any poster or paper which has already included the submitted
6. The identity of the contributing genetic centre and a responsible contact
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.
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
Dr John Barber
National Genetics Reference Laboratory (Wessex)
Salisbury District Hospital
NHS Foundation Trust
Tel: +44 (0)1722 429080
Fax: +44 (0)1722 338095
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.