Hi,
Anyone outhere has some experience on 6P- genetic defect.
We recently have got a patient who had the Trisomy syndrome features including
cleft lip, trisomy hand, posterior rotated lowset malformed ear, and also
congenital heart defects including patent ductus arteriosus and atrial septal
defect and also congenital hydrocephalus.
However repeated chromsomal study did not confirm the diagnosis of trisomy 13
syndrome (Patau's syndrome), instead it was found that there was a small
deletion on the short arm of the chromosome 6. We tried to look it up from the
large textbook and it seemed that we could not really locate such a chromosomal
defect with the associated congenital abnormalities.
If anyone has information or know where I could get some more information,
please kindly leave me a note.
Thanks in advance.
Dr David Chiu
Hong Kong
