Tetrasomy 18p: tentative delineation of a syndrome
نویسندگان
چکیده
منابع مشابه
Ophthalmic 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 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 کاملSibs with tetrasomy 18p born to a mother with trisomy 18p.
We report a family with an 18p trisomic mother and two 18p tetrasomic daughters. The mother is phenotypically normal and healthy, but with an unusual type of trisomy 18p: 47,XX,del(18)(pter----p11.21),+i(18p) de novo. The older sister has microcephaly, mental retardation, an asymmetrical and peculiar face with low set ears, pinched up nose, high arched palate, small mouth, micrognathia, taperin...
متن کاملTetrasomy 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 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...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1983
ISSN: 1468-6244
DOI: 10.1136/jmg.20.2.144