Tetrasomy 18p: case report and review of literature
نویسندگان
چکیده
منابع مشابه
Tetrasomy 18p: case report and review of literature
Tetrasomy 18p syndrome (Online Mendelian Inheritance in Man 614290) is a very rare chromosomal disorder that is caused by the presence of isochromosome 18p, which is a supernumerary marker composed of two copies of the p arm of chromosome 18. Most tetrasomy 18p cases are de novo cases; however, familial cases have also been reported. It is characterized mainly by developmental delays, cognitive...
متن کاملA case report of prenatally diagnosed tetrasomy 18p
Tetrasomy 18p, one of the most commonly observed isochromosomes, consists of two copies of the p arms on chromosome 18[i(18p)]. It is known as a de novo occurrence of non-disjunction or centromeric mis-division during meiosis II in the vast majority of cases. It has a prevalence of 1/140,000-180,000 live births and affects both genders equally. A 28-year-old woman was referred at 33+2 weeks ges...
متن کاملOphthalmic manifestations of tetrasomy 18p.
PURPOSE To characterize ophthalmic findings in patients with tetrasomy 18p, a rare chromosomal anomaly that has been previously associated with strabismus. METHODS All subjects underwent a complete eye examination to screen for ocular pathology. RESULTS A total of 25 subjects (13 female) were examined after they were diagnosed with tetrasomy 18p. The average age of subjects was 8.2 years (r...
متن کاملTetrasomy 18p: report of cognitive and behavioral characteristics.
Our purpose was to describe intellectual and behavioral characteristics of persons with tetrasomy 18p. This is a more detailed investigation into the cognitive and behavioral characteristics of our previously reported tetrasomy 18p cohort of 43 plus six additional participants. We evaluated the intellectual functioning using standard measures of cognitive ability, measures of executive function...
متن کاملZYGOMYCOSIS OF COLON CASE REPORT AND REVIEW OF THE LITERATURE
Zygomycosis is a fulminant infection which usually afflicts patients who are immunocompromised by diabetes mellitus, malignancy or immunosuppressive therapy.l This disease is a rare but highly invasive fungal infection which occurs in organ transplant recipients. 2 Mucormycosis confined to the gastrointestinal tract is an uncommon form of the disease. accounting for only seven percent of al...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: The Application of Clinical Genetics
سال: 2018
ISSN: 1178-704X
DOI: 10.2147/tacg.s153469