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Joseph K. O'Connor Joseph_K._O'Connor at sciarc.edu
Tue Feb 13 20:27:46 EST 1996


My daughter, Siobhan, has severe developmental delays. She'll be four in
July, learned to walk unaided two months ago, and cannot speak. She can
vocalize, but is unable to make consonants. She is able to approximate a few
words and can use them correctly. After years of searching for the cause of
her condition Siobhan has been diagnosed by Dr. Barbara Crandall, geneticist,
at UCLA Medical Center. Dr. Crandall has demonstrated that in 40 to 60
percent of Siobhan's blood cells there is a deletion at the tip of the P5
(P5.3) chromosome. The syndrome in which this particular deletion appears is
named "cri-du-chat" because the infant will cry like a cat. I downloaded an
.au file from a web site on which there is a mention of this syndrome and the
cry is eerily like that of a cat. I first heard the sound in that file
because Siobhan never had that distinctive cry. Dr. Crandall theorizes that
perhaps Siobhan does not have severe effects because the deletion does not
happen in all cells, but can't say for sure. Other effects of the deletion
which Siobhan does not have are heart disease, and severe retardation. I'm
not sure of the accuracy of the diagnosis because Siobhan does not have most
of the effects. In fact, Dr. Crandall sent us two articles with information
about deletions on this and adjacent areas of the P5 and the upshot of the
whole thing so far is that we are confused.

I'm writing this with two questions in mind. If you or someone you know has
information or pointers to information about "cri-du-chat" could you please
send me that info? Do you know of researchers who might be able to get us in
touch with people with this syndrome or their families? If you have any
information about this please contact me, and I'll check back here on
bionet.info-theory to see if anyone posts about this.


Joseph Karr O'Connor
Computer Lab Manager
Southern California Institute of Architecture
vox: 310-574-1123
fax: 310-574-3801
jko at sciarc.edu
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