HUM-MOLGEN archive: DIAG: 4 messages

***************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ***************************************************************** This DIAG message contains 4 professional requests: 1) Klippel-Feil Syndrome 2) FISH probes for 2q14.2-q2.1 3) Cornelia de Lange Syndrome 4) Request for mitochondrial DNA REPLIES TO THESE MESSAGES SHOULD BE SENT TO THE PERSON MAKING THE REQUEST AND NOT TO HUM-MOLGEN. Carlo Gambacorti, MD, Editor, Harker Rhodes, MD, Assistant Editor Human Molecular Genetics Network Diagnostics/Clinical Research Section ***************************************************************************** ***************************************************************************** 1) Klippel-Feil Syndrome: We are seeking patients with Klippel-Feil Syndrome to be included in our NH&MRC funded and ethics approved (No 95/40) genetic screening for the KFS genes. Patients are required to sign the appropriate consent forms prior to providing a blood sample for DNA and RNA analysis. Dr Raymond Clarke St George Hospital Australia r.clarke@unsw.edu.au ********** 2) FISH probes for 2q14.2-q2.1 Dear colleagues: We have an intetersting case with familial deletion of chromosome #2 at band 2q14.2-q2.1. We are planning to do FISH study to determine the exact size and nature of the defect. Please, let me know if you have probes for such area or if you know someone who may be willing to supply us with those probes. Unfortunately, I have no internet access here to access Online serives such as the GDB or EMBL. Thank you , O.K.Zaki,MD Saudi Arabia e-mail: OZAKI@KSU.EDU.SA ********** 3) Cornelia de Lange Syndrome I'm looking for information about Cornelia de Lange syndrome because we have a 10 yeras old child this syndrome. She has a high myopia and I'm not sure about her refraction and about the correction possibility. We are an ophtalmologist group and have never ever seen a case like this. Thanks for your attention. Risla Gomes Brasil rigomes@domain.com.br ********** 4) Request for mitochondrial DNA I am technician at Children's Mercy Hospital in Kansas City, MO and I need some help. I perform clinical diagnostic testing for mitochondrial mutations involving the MERRF and MELAS diseases. As I am sure those familiar with these diseases are well aware, they are quite rare. It is for this reason that I lack quality positive controls for some of the mutations. Thus, I was wondering if anyone knew of anywhere from which I might obtain positives controls for any of the MERRF or MELAS mutations in any form: cell lines, DNA, etc. I would appreciate any help or advice. Thank you, Scott Hummel Kansas City, MO, USA hummel@hotmail.com ************************************************************************ HUM-MOLGEN - Internet Communication Forumin Human Genetics E-mail: HUM-MOLGEN@nic.surfnet.nl WWW: http://www.informatik.uni-rostock.de/HUM-MOLGEN/ Phone: 020-5664598 (The Netherlands), (206) 386-2101 (USA) Fax: 020-691 6521 (The Netherlands), (206) 386-2555 (USA) ---------------------------------------------------------------------------- --------------- >"copyright HUM-MOLGEN"