HUM-MOLGEN archive: DIAG (8 Messages)

The following messages have been submitted to the DIAG section of HUM-MOLGEN. Replies should be made directly to the originator of each message, unless the message is from a non-professional in which case replies should be made to HUM-MOLGEN. Summary of 8 Messages: 1) Attention Deficit Disorder (III) 2) Chromosome 4q21 Structural Re-Arrangements (IV) 3) Thalassemia Major (III) 4) Wilms Tumor (II) 5) Kartagener's (III) 6) Ring Chromosome 11 (IV) 7) Achondroplasia/Hypochondroplasia (IV) 8) Cytochrome C Deficiency (III) ***************************************************************** MESSAGE 1 PATIENT REQUEST - REPLY DIRECTLY TO HUM-MOLGEN Subject: Attention Deficit Disorder Patient Location: USA (Alabama) Reply To: ED-MOLGEN@NIC.SURFNET.NL A colleague down the hall-way just stopped by to inquire about attention deficit disorder......is this condition hereditary? if so, what is the genetic basis for it (single-gene or complex)? Can it be treated....a relative has been diagnosed with this disorder and it seems to be eating-away at the whole family: lack of sleep etc...please help...thank you for any information you may provide: Ed Smith Tuskegee, Alabama ***************************************************************** MESSAGE 2 From: Maurice Godfrey Subject: 4q21 deletion/translocation/inversion Reply-To: mgodfrey@unmc.edu (Maurice Godfrey) We are interested in receiving cells from patients with 4q21 region deletions, translocations, or inversions. All our studies will, of course, be collaborative. The research has IRB approval from the University of Nebraska. Maurice Godfrey, Ph.D. University of Nebraska Medical Center 600 S. 42nd Street Omaha, NE 68198 USA TEL (402)559-9197 FAX (402)559-7248 ***************************************************************** MESSAGE 3 PATIENT REQUEST - RESPOND DIRECTLY TO HUM-MOLGEN Subject: Regarding Information About Thalasssemia Major Patient Location: Pakistan Reply to: ED-MOLGEN@NIC.SURFNET.NL Kindly inform us about the recent advances in Thalassemia Major. I have my nephew of 6 months age recently diagnosed as Thalassemia Major case and we want to Know certain question regarding him. 1. Can the Bone Marrow Transplant be carried out in 6 months baby if not at what age is it possible? 2. What are the pre-requisites of this procedure? 3. How much is the cost of this procedure? 4. Who will be the donor in this case and what are the test required to find the donor. I would be grateful if you please respond immediately by e-mail or by postal address given below. Please send us the maximum details where it is best carried out and where should we contact. Thanks & Regards. ***************************************************************** MESSAGE 4 Subject: Wilms Tumor/Aniridia From: Dr. Alan Khoo Reply To: alankhoo@imr.gov.my Dear Colleagues: I am a clinician at the Department of Paediatrics, Kuala Lumpur Hospital, Malaysia and a researcher at the Division of Molecular Pathology, Institute for Medical Research, Kuala Lumpur, Malaysia. I am interested to know: 1) What is the risk of Wilm's tumour in patients withisolated aniridia (with normal chromosomes at 400 band resolution)? 2) What is/are the molecular genetic abnormality in such a condition? 3) Is the AN2 gene involved in most of these cases? 4) Would trying to look for deletions at the WAGR locus particularly the AN2 locus and defining the extent of deletions at molecular level (eg. by looking for loss of heterozygosity of microsatellites) be useful? 5) Are there articles in this area? Thanks. Dr. Alan Khoo Division of Molecular Pathology Institute for Medical Research Jalan Pahang 50588 Kuala Lumpur, Malaysia Fax: +60-3-2938306 E-mail: alankhoo@imr.gov.my ***************************************************************** MESSAGE 5 - PATIENT REQUEST - REPLY DIRECTLY TO HUM-MOLGEN Organization: Sentimental Journeys Subject: Kartagener Syndrome Patient Location: USA Reply To: ED-MOLGEN@NIC.SURFNET.NL I have a child with Kartagener's and am interested in information, participating with other families or medical research involving a cure or better medical treatment. Send info to HUM-MOLGEN. Christy Timmons ***************************************************************** MESSAGE 6 From: Gerson Carakushansky, M.D. Subject: Ring 11 Chromosome Reply-To: gercar@unisys.com.br Dear Sir: We know that at least three cases of ring 11 chromosome with phenotypes compatible with partial monosomy 11q have been reported. We have recently studied a 5-year-old girl referred for evaluation of growth retardation and dysmorphic features. On clinical examination, besides short stature she displayed other typical features of chromosome 11q- syndrome. Cytogenetic analysis confirmed a ring 11 chromosome. I want to know who may perform chromosome 11 specific painting probe and/or molecular studies in this patient and would be interested in a collaborative study. Please send your reply to: Prof. Dr. Gerson Carakushansky Chief of Genetic Services Instituto de Pediatria da UFRJ Rio de Janeiro - Brazil FAX: (5521) 522-3599 e-mail: gercar@unisys.com.br ***************************************************************** MESSAGE 7 From: Marlene Huggins Subject: Achondroplasia/hypochondroplasia complex Reply To: hugginsm@ihis.cmh.on.ca I would like to hear from anyone who has experience with achondroplasia/hypochondroplasia complex. We are following a couple, now at 32 weeks gestation. The mother has hypochondroplasia, the father has achondroplasia (both proven by molecular testing). We have not done molecular testing on the fetus; however, by ultrasound it appears to be severely affected. The couple is faced with making decisions about management after delivery. I have found only one case describing survival past the newborn period. Does anyone have any clinical experience to share? thank you in advance for any assistance. Marlene Huggins, MSc Genetic Counsellor Ontario, Canada hugginsm@ihis.cmh.on.ca ***************************************************************** MESSAGE 8 PATIENT REQUEST - REPLY DIRECTLY TO HUM-MOLGEN From: DR. OSAMA KAMAL ZAKI Subject: CYTOCHROME C OXIDASE DEF Reply-To: ED-MOLGEN@NIC.SURFNET.NL Dear Colleagues, I am sending this message on the part of a parent of a case of cytochrome c oxidase deficiency. He had another child with the same condition who died of heart failure at the age of 4 months. The case is a girl and she is suffering of psychomotor retardation with hypertrophic cardiomopathy. She is currently on high doses of vitamins and carnitine. She has been advised to receive coenzyme q10(100 mg/kg/day) which has been reported to be helpful in cases of mitochondrial myopathy. He is in need to know some center or group who is experienced in the management of such cases, and is asking whether there is a hope for other effective lines of therapy. Clinical details and all lab investigations are available on your request. Thank you O.K. ZAKI,MD