Tetrasomy 18p: report of cognitive and behavioral characteristics.
نویسندگان
چکیده
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 functioning, adaptive and maladaptive behaviors. Intellectual abilities ranged from mild impairment/borderline normal to severe/profound impairment calling into question the assumption that severe cognitive limitation is always a feature of tetrasomy 18p. For persons with tetrasomy 18p with mild cognitive deficits, the main barriers to successful functioning stems from limited social and metacognitive skill development and behavior regulation problems rather than being solely determined by cognitive deficits alone.
منابع مشابه
Prenatal Diagnosis of Mosaic Tetrasomy 18p in a Case without Sonographic Abnormalities
Small supernumerary marker chromosomes (sSMC) are still a major problem in clinical cytogenetics as they cannot be identified or characterized unambiguously by conventional cytogenetics alone. On the other hand, and perhaps more importantly in prenatal settings, there is a challenging situation for counseling how to predict the risk for an abnormal phenotype, especially in cases with a de novo ...
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 the molecular and clinical findings of 43 individuals.
Thus far, the phenotype of tetrasomy 18p has been primarily delineated by published case series and reports. Findings reported in more than 25% of these cases include neonatal feeding problems, growth retardation, microcephaly, strabismus, muscle tone abnormalities, scoliosis/kyphosis, and variants on brain MRI. Developmental delays and cognitive impairment are universally present. The purpose ...
متن کاملPrenatal Diagnosis of Mosaic Tetrasomy 18p in a Case without Sonographic Abnormalities
Small supernumerary marker chromosomes (sSMC) are still a major problem in clinical cytogenetics as they cannot be identified or characterized unambiguously by conventional cytogenetics alone. On the other hand, and perhaps more importantly in prenatal settings, there is a challenging situation for counseling how to predict the risk for an abnormal phenotype, especially in cases with a de novo ...
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...
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ورودعنوان ژورنال:
- American journal of medical genetics. Part A
دوره 167 7 شماره
صفحات -
تاریخ انتشار 2015