DIAG: 2 messages

[Agnes Tay <mcbtayhn@leonis.nus.sg>]

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           HUM-MOLGEN  DIAGnostics/Clinical Research
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This DIAG message contains  2 submessage(s):

1) AD Leg Pain?

2) WAS molecular testing


Carlo Gambacorti MD, Editor,            Agnes Tay, MD PhD, Asst Editor
Human Molecular Genetics Network
Diagnostics/Clinical Research Section
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1) AD Leg Pain?

Dear Sir/Madam:

        A clinical geneticist colleague, Dr. J. Allanson, has asked me to
post the following message:

        Has anyone seen a family with an apparently dominant transmission of
leg pain?  The pain occurs daily (max) to weekly (min); it begins in infancy
or childhood and will tend to improve/disappear in the early thirties; it is
a "bruise-like, intense, dull pain affecting hips and ankles; it lasts 30 to
45 minutes; it is exacerbated by cold, and improved by heat, activity,
massage, and non-steroidal anti-inflammatory drugs; it may occur at any time
of day, but is most common in the evening, and may wake the affected
individual from sleep; when hands are involved, they become red, sweaty and
"hard" during an episode; there may be associated nausea, sweating and
tachycardia, but probably no fever. The family is of French-Canadian background.

Anyone with similar families can respond directly to Dr. J. Allanson:
ALLANSON@cheo.on.ca

Thank-you.

Marsha Speevak, PhD
Children's Hospital of Eastern Ontario
Ottawa, Canada
mdspeevak@cyberus.ca
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2)
WAS Molecular Testing
We have a patient with Wiskott-Aldrich syndrome.  The infectious disease
physicians are interested in molecular testing for this condition for 1)
any genotype/phenotype correlation, and 2) carrier/prenatal testing.  The
services that we have been able to find are limited to X-inactivation or
linkage testing.  Does anyone know of a lab doing molecular testing
(diagnostic or research) for Wiskott-Aldrich?

Thank you,


Angela E. Scheuerle, M.D.
Assistant Professor
Division of Medical Genetics
Department of Pediatrics
UT Health Science Center - Houston
6431 Fannin, MSB 3.144
Houston TX  77030
ascheuer@ped1.med.uth.tmc.edu