HUM-MOLGEN archive: DIAG: 8 messages/3 Pt Req

***************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ***************************************************************** This DIAG message contains 5 professional requests and 3 patient requests: 1) McCune-Albright syndrome 2) Isolated hemihypertrophy - PATIENT REQUEST 3) Trisomy 9 support group - PATIENT REQUEST 4) CFTR testing 5) Campomelic dysplasia 6) Late onset cerebellar ataxia 7) Kartagener Syndrome and Situs inversus totalis - PATIENT REQUEST 8) Coarctation in a 47XXY 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) McCune-Albright syndrome I am interested to know if anyone has experience of pregnancy in ladies affected by McCune-Albright syndrome. A lady affected by this disorder is now pregnant and asked for recurrence risk and prenatal diagnosis; no mutation analysis has been performed till now in her. Any suggestion helpful to be added to the routine genetic counselling will be welcome. Cesare Danesino Prof. of Medical Genetics University of Pavia Italy Prof. Cesare Danesino, MD Dip. Patologia Umana ed Ereditaria, Universita di Pavia Via Forlanini 14, 27100 Pavia, Italy Phone (+39) 382 507 519 Fax (+39) 382 525 030 E-mail cidi@ipv36.unipv.it ********** 2) Isolated hemihypertrophy Apparent patient location: USA PATIENT REQUEST - PLEASE RESPOND DIRECTLY TO HUM-MOLGEN I have mild isolated hemihypertrophy (without any other disease associations), and am interested in knowing the relative risk of transmitting Beckwith Wiedemann syndrome, Proteus syndrome, Wilm's tumor, etc. on to my offspring. Any statistics? Thank you. ********** 3) Trisomy 9 support group Apparent patient location: USA PATIENT REQUEST - PLEASE RESPOND DIRECTLY TO HUM-MOLGEN I am a Grandmother with two grandchildren who have Chromosome 9 abnormalities and I am support group leader for our Trisomy 9 support group. Our group name is 9 TIPS, or Trisomy 9 International Parent Support. We are looking for Trisomy 9 families or medical abstracts with following cytogenetic diagnosis: 46xyder(9t(9;15)(q21.2;q26.3)der(15)t(9;15)(q22.1;26.3). This family has not been able to find this type of Trisomy 9 in years of searching. ********** 4) CFTR testing Is there anybody interested in screening for mutations in the CFTR gene in a female teenager with chronic pulmonary problems, borderline sweat tests, but no evidence fro pancreas insufficiency. If so please contact me directly. Jon J. Jonsson, M.D., Ph.D. Docent and Director Department of Clinical Biochemistry Landspitalinn - National University Hospital of Iceland Tel.: 354-560-1840 FAX: 354-560-1810 email: jonjj@rsp.is ********** 5) Campomelic dysplasia We had a patient in which we made the prenatal diagnosis, by ultrasound criteria, of campomelic dysplasia. The chromosomes were normal. We are trying to find someone working with SOX 9 gene that would be interested in checking the DNA of this fetus for mutations of campomelic dysplasia. Thank you Jose Ferreira, M.D. zec@inx.net Genetics Fellow, Montefiore Medical Center (AECOM), New York ********** 6) Late onset cerebellar ataxia I have a client that has been diagnosed with late onset cerebellar ataxia. Since I am a social worker and not a physician, I am looking for a way to explain this in laymens terms. I am also interested in the latest occupational and physical therapies available to enhance the "best quality of life" for this client. Any and all information I could receive would be most appreciated. Thank you. "Bille S. Draper, BSW" <trolls50@hotmail.com> ********** 7) Kartagener Syndrome and Situs inversus totalis Apparent patient location: USA PATIENT REQUEST - PLEASE RESPOND DIRECTLY TO HUM-MOLGEN My name is Vicente de Paula Junior. I am 24 years old. I'm have Kartagener Syndrome and Situs inversus totalis. I would like to know about any reaserch about my desease in which I can participate. I'm asking for medical help. ********** 8) Coarctation in a 47XXY We recently saw a 6 year old phenotypically male child with penoscrotal translocation, unilateral cryptorchidism, coarcation of the aorta requiring surgery in early neonatal period, and true shortening of the left tibia. He is hyperactive. His karyotype was 47XXY. Has anyone ever seen coarctation in a 47XXY? How about true shortening of the lower limb? Please reply directly to my email address. Thanks very much paetaya@nus.edu.sg (Agnes Tay/Dept of Pediatrics, National University of Singapore) ************************************************************************ 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"