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Transcript
Jacobsen Syndrome Ashley Osborne Quesha McClanahan Orchi Haghighi • is a rare congenital disorder resulting from deletion of a terminal region of chromosome 11 that includes band 11q24.1. • It can cause intellectual disabilities, a distinctive facial appearance, and a variety of physical problems including heart defects and a bleeding disorder. Young girl with Jacobsen Syndrome from Clermont, Florida. • Other common medical complications include recurrent infections, decreased platelet count • The syndrome derives its name from a Danish physician, Dr. Petra Jacobsen, who first described an affected child in 1973. • One copy of chromosome 11 is missing so an affected person has one out of a possible two copies of the genes in that region. • It is the loss of these genes that leads to the multiple problems found in Jacobsen syndrome. Symptoms • Individuals with Jacobsen syndrome have a distinctive physical appearance. The face is characterized by widespaced eyes (hypertelorism), droopy eyelids (ptosis), redundant skin covering the inner eye (epicanthal Hypertelorism- upper left & Ptosis- upper right Epicathal Folds- bottom left & Micrognathia- bottom right folds), a broad or flat nasal bridge, a short nose with upturned nostrils, a small chin (micrognathia), low-set ears, and a thin upper lip. • Children with Jacobsen syndrome usually have some degree of mental retardation, ranging from mild to severe. • Nearly all affected individuals also have decreased muscle tone (hypotonia) or increased muscle tone (hypertonia) as well as motor delays. Occasionally, brain abnormalities are present. • Multiple types of physical abnormalities are known to occur in individuals with Jacobsen syndrome. • Congenital heart disease is present in about half of affected children • Other common internal abnormalities include pyloric stenosis, undescended testes, inguinal hernia, kidney defects, urinary tract abnormalities, craniofacial abnormalities, and external ear anomalies are frequent. Craniofacial Abnormalities • There are a variety of other health problems found in individuals with Jacobsen syndrome. Illnesses including recurrent respiratory infections • Also gastrointestinal problems such as gastroesophageal reflux and chronic constipation may occur. Causes • It is caused by the loss of a small portion of a chromosome at conception. • In Jacobsen syndrome a small piece of the 11th chromosome is missing (or deleted) and this causes a range of clinical features in individuals with this condition. • The features are related to the genes that are absent from the small piece of chromosome 11 that is missing. • The reason for the loss of the piece of chromosome is not fully understood. • Jacobsen syndrome occurs more frequently in females than males. Diagnosis • Most individuals with Jacobsen syndrome are diagnosed after birth. The diagnosis is usually made through a blood test called chromosome analysis in an infant or child who has mental retardation and a typical facial appearance. • The karyotype will show a deletion or rearrangement of the longer segment, known as the q arm, of one copy of chromosome 11. • Jacobsen Syndrome can be diagnosed before birth. There have been reports of prenatal diagnosis through amniocentesis after an ultrasound demonstrated one or more fetal abnormalities. • Another technique, known as FISH (fluorescent in-situ hybridization), may be used to further define the chromosome 11q deletion breakpoints Treatment • Varies depending on the severity that may develop • Services and Programs -Physical and Speech Therapy -Social, Vocational and Medical services -Educational Support • Surgery • Genetic counseling Impact • Family is emotionally disturbed • Many join a support group • Impacts learning disabilities and your ability to take care of yourself • Mobility Bibliography • http://www.healthline.com/galecontent/jacob sen-syndrome-1/2 • http://www.wrongdiagnosis.com/j/jacobsen_s yndrome/intro.htm • http://www.cafamily.org.uk/medicalinformati on/conditions/azlistings/j10_3.html • http://www.wikigenes.org/e/gene/e/3719.ht ml