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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: DIAG:
From: Carlo Gambacorti <GAMBACORTI@icil64.cilea.it>
Date: Mon, 22 May 1995 09:04:27 MET-DST


This DIAG message contains 2 submessages:

1)   Balanced 1;5 translocation

2)   Familial Coloboma

                 HUM-MOLGEN  DIAGnostics/Clinical Research

 I have a pregnant family member with a fetal karyotype which exhibits a
"balanced 1,5 translocation" by light microscopy.  One of the parents
also exhibits this karyotype and is phenotypically normal.  There is no
family history of retardation or genetic disease, although there is a
history of spontaneous miscarriages.

   There appears to be a standard reccomendation in the literature that
familial(not de novo) apparently balanced translocation confers no
greater risk than the background IF the parent is phenotypically normal
and a translocation carrier.  However a few older papers by Fryns et al
from 1986 and 1988 seem to dispute this. Steinbach(1986) accuses the
Fryns paper of ascertainment bias.

   Specifically, is the risk of abnormality reduced to the so called
background risk in light of the phenotypically normal parent?  Also, is
there the possibility of a more detailed submicroscopic point by point
comparison of the parental chromosomes with the fetal chromosomes to
increase the likelihood of a normal child.

  Thank you in advance for reading this message, and for any help you
might provide, time is of the essence.

Deborah W Rowe


I'm attempting to find out if there are any labs that are looking at familial
coloboma. We recently evaluated a child with bilateral iris, choroid and retina
coloboma. A dysmorphology exam was unremarkable for any signs of an underlying
syndrome and the child is devloping normally. The proband's father has
undergone numerous ophthalmologic assessments without any evidence of coloboma.
His brother, his father, and three paternal aunts are affected.
  This family would be interested in participating in any molecular research
looking at candidate genes for coloboma. I would be delighted to hear from
any researchers that would be interested in studying this family.

   Anna Newlin, MS
   Genetic Counselor
   University of Illinois at Chicago
   Eye and Ear Infirmary

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