DIAG - 2 messages

[Robert Resta <bc928@scn.org>]

The following messages were sent to the DIAG section of HUM-MOLGEN.
Replies should be sent to the originators of the messages.

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>I have evaluated a family with scapuloperoneal amyotrophy (Kaeser type)
>(MIM #181400) with two affected brothers. The family members are extremely
>interested in providing samples for research purposes. Is anybody doing
>linkage analysis on this disease? Has anybody else observed families
>affected with it?
>
>Romeo Carrozzo, M.D.
>Servizio di Genetica Medica
>Ospedale San Raffaele
>c/o TIGEM
>Via Olgettina 58
>20132 Milano
>Italy
>Tel +39 2 26437329
>Fax +39 2 21560220
>e-mail: carrozzo@tigem.it
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>


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Dear Madam/Sir

I am working on the mammalian Polycomb group gene, especially mel-18 etc.
Our knock out mice have several phenotypes, including severe
immunodefficiency (SCID), posterior transformation of vertebrae, and
multiple intestinal atresia etc.  Thus we are lo

oking for the human syndrome or diesese of intestinal atresia with SCID phenotypes.   As human mel-18 is mapped at chromosome 12q22, someone knows about chromosomal abberation around this loci with this phenotypes??

Thank you for your help.

Masamoto KANNO, PhD.
Associate Professor

Center for Biomedical Science
School of Medicine,
Chiba University
Japan
kanno@med.m.chiba-u.ac.jp
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