HUM-MOLGEN archive: DIAG: 5 messages/3 PT. REQ.

***************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ***************************************************************** This DIAG message contains 2 professional requests and 3 patient requests: 1) Cyclic neutropenia - PATIENT REQUEST 2) Chromosome 5 mosaic - PATIENT REQUEST 3) Partial transcobalmin I deficiency 4) inv(5)(p13.1q13.1) - PATIENT REQUEST 5) Duplication of Xq23-26 REPLIES TO PROFESSIONAL REQUESTS 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) Cyclic neutropenia Apparent patient location: USA Patient request - Please respond to HUM-MOLGEN My son ( 11 weeks old) was recently diagnosed with cyclic neutropenia. I would like to get in touch with people doing research in this area. This disease appear to be autosomal dominant. My husband and I would like to get tested (we might have a milder form of it) but without our insurance company knowing. So far the only test I know for CN is serial CBCs. Has somebody mapped the gene? Is It G-CSF receptor???. What about long term therapy with Filgrastim? Is there a registry for CN?. Thank you, for the help ********** 2) Chromosome 5 mosaic Apparent patient location: USA Patient request - Please respond to HUM-MOLGEN My son had a chromosome test done and it came back 46,xy,inv(5)(p13.1q13.1)(84/100) 46,xy,(16/100). The doctors said this is not seen very often in the general public. They could not give me any syndrome or effect that this would have on him. He has been in special education since he was 3 years old. He will be 9 years old in October. He is speech delayed, cognitive abilities are delayed. His dad and I were also tested and came back normal. He was a full term baby but he only weighed 5lbs. He had very little fat on him. He had a hard time keeping his body temp up. When I was about 6 months pregnant they found I had a calcified placenta. Nothing extra was done as far as more vitamins or anything that the baby might not be getting because of this. At three weeks old he had to have surgery for pyloric stenosis. He never really gained weight where he should have been. At seven years old he went from being on the charts three lines from the bottom, to being in the 90th percentile. I would like to hear from anyone has a child or knows someone who has a child with this chromosome abnormality. He can't be the only one with this. Thank you for any help anyone can give me. ********** 3) Partial transcobalmin I deficiency I am treating a 40 y male with Vit.B12 deficiency and sensory neuropathy in whom partial transcobalmin I deficiency was documented. His father was followed in our clinic for mental decline and found to have B12 deficiency but transcobalamin was not studied at that time . There are several family members who have been diagnosed years ago as B12 deficiency. Available and informative family members will be studied soon. Our concern is the question of treatment . Lacking transcobalamin will prevent Vit. B12 from entering tissues . How can we overcome this by pareneteral Vit B12 only? gadoth@post.tau.ac.il (N. Gadoth MD) ********** 4) inv(5)(p13.1q13.1) Patient request - Please respond to HUM-MOLGEN Wondering if anyone out there has come across the karyotype: 46, xy,inv(5)(p13.1q13.1) (84/100) de novo. What is the outcome be with this abnormality? My son has this and is globally delayed and had intrauterine growth retardation. Thanks for any help. ******************************** 5) Duplication of Xq23-26 I have a 9 month old female patient with a duplication of Xq23-26. She is developmentally delayed, FTT (Failure to Thrive),has genitalia abnormalities, ptosis of the eyes and a few other underlying metabolic conditions which they are trying to determine. As a nurse, I am trying to find out what her prognosis might be. Thank you for your assistance in this matter. Anne Boughton, RN, BSN, Medical University of South Carolina email: Nurse70152@AOL.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"