1. What other names are there for this disease?
· Jacobsen Syndrome · 11Q Terminal Deletion Disorder · Monosomy 11Q ter · Partial Deletion 11Q · Distal Deletion 11Q · Distal Monosomy 11Q · Telomeric Deletion 11Q · 11Q-syndrome · Del 11Q ter · Del 11Q 23.3 2. What causes the disorder? · Mutation: Partial Deletion of the long arm of chromosome 11 3. What gene /chromosome are affected by this disorder? · Chromosome 11Q 4. Are there prenatal tests for this disorder? · Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis 5. What are the symptoms? · Congenital Heart Defects · Thrombocytopenia · Mental Retardation · Cognitive Dysfunction · Impaired Expressive Language Use · Eye Symptoms · Gastrointestinal Symptoms · Short Stature · Genitourinary Problems · Delayed Motor Skills · Severe Platelet Dysfunction · Increased Risk of Bleeding · Retarded Growth · Psychomotor Retardation · Trigonocephaly · Strabismus · Epicanthus · Telecanthus · Broad Nose Bridge · Short Nose · Anteverted Nostrils · Carp-Shaped Upper Lip · Small Jaw · Low Set Ears · Abnormal Ear Shape · Camptodactyly · Hammertoes · Short Thumb · Abnormal Thumb Position · Narrow Chest · Diastasis Recti · Abnormal Anal Position · Low Blood Sugar · Pancytopenia · Osteopenia · Hearing Loss · Osteoporosis · Narrowed Urethra · Partial Corpus Callosum Agenesis · ADHD 6. What population is affected? Can anyone be a candidate for the disorder? · Newborns – de novo 7. How is it inherited? · Most cases of Jacobsen Syndrome are not inherited. · Between 5 percent and 10 percent of people with Jacobsen Syndrome, inherit the chromosome abnormality from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which a segment from chromosome 11 has traded places with a segment from another chromosome. · Neither recessive/dominant or sex-linked. 8. Medical assistance needed? Will further assistance be needed? What is the long –term outlook? · Yes. No. The infant is expected to die from failures of the heart or lungs before adulthood. 9. Are there any treatments or cures? · There are no cures but there are treatments such as : · Surgery for defects 10. Could this disorder have been prevented? · No. There is no way to stop this disorder. 11. Can this individual have children in the future? Will those children be affected? · Yes . There is a 1/100,000 chance they will be affected. 12. Current status of research? Is there a cure coming soon? · There is no cure as of now . |
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