A-154 Chromosome 18q Deletion & Chromosome 18p Duplication: A Neuropsychological Case Study
نویسندگان
چکیده
Abstract Objective: The client presents with partial deletion of chromosome 18q and duplication 18p, occurring in 1 55,000 individuals less than 1,000,000 individuals, respectively. Deletions are often characterized by hypotonia, seizures, psychomotor retardation, intellectual disability. Duplications 18p disability, epilepsy, developmental delay, attention deficits. Method: is a 5-year-old male, who was diagnosed the above-mentioned genetic disorders Chiari malformation at age 2. Additionally, speech delay low muscle tone. client’s parents sought testing to clarify his cognitive emotional functioning light inform treatment supports. Results: Nonverbal assessment average range. Academic achievement noted reading skills, impaired math abilities, borderline spelling. Neuropsychologically, impairments were verbal memory, simple auditory attention, semantic fluency, visual perception, motor coordination, integration, affect recognition. Mild moderate inefficiencies comprehension instructions, response inhibition, fine dexterity, perspective taking. Otherwise, performed range on tasks behavioral inhibition persistence, expressive language, receptive language. Conclusions: Given limited literature, it expected these will be associated disabilities attentional difficulties. However, IQ range, he potential learning reading, writing, mathematics visual-motor, social perception
منابع مشابه
A de novo Deletion of Chromosome 18p With Persistent Limb Tremor and Difficulty Speaking: A Case Report
The common causes of 18p deletion syndrome are spontaneous errors in the chromosomal structure in the early stages of human embryonic development. In this study, a 29-year-old girl was introduced with the features of deletion of chromosome 18. In addition, GTG banding karyotype revealed that this case had a deletion involving the short arm of chromosome 18. In comparison with the usual phenotyp...
متن کاملRing Chromosome 18: A Case Report
Ring chromosomes are rare chromosomal disorders that usually appear to occur de novo. A ring chromosome forms when due to deletion both ends of chromosome fuse with each other. Depending on the amount of chromosomal deletion, the clinical manifestations may be different. So, ring 18 syndrome is characterized by severe mental growth retardation as well as microcephaly, brain and ocular malformat...
متن کامل[A case of pseudoisodicentric chromosome 18q detected at prenatal diagnosis].
Although trisomy 18 (Edwards' syndrome) or the terminal deletion syndromes of 18p and 18q have been occasionally detected, pseudoisodicentric chromosome 18 is a very rare constitutional chromosomal abnormality. We describe a case of pseudoisodicentric chromosome 18q without mosaicism, which was confirmed from fetal cells in the amniotic fluid used for prenatal diagnosis of multiple congenital a...
متن کاملA Rare Case of Duplication of Chromosome 2 (q31.3q36.3) in a 4.5-year-old Boy and Review of the Literature
De novo duplication of 2q is very rare. Most cases of 2q duplications result from familial translocations, and are associated with simultaneous monosomy of another chromosome segment. To our knowledge and search in English literature there are less than 20 reported cases of isolated 2q duplication. Hereby we introduce a 4.5-year-old Iranian boy of a non-consanguineous marriage who was referred ...
متن کاملA rare case of de novo mosaicism: Deletion 18p and isochromosome 18q syndrome.
Monosomy 18p syndrome is a rare chromosomal disorder with varying phenotypic and clinical manifestations. Dysmorphism, growth delay, delayed speech and mental retardation are a few of the commonest features observed. The cytogenetic findings also vary and may comprise a pure deletion of the entire 18p arm or a deletion of a part of the 18p arm, if involved in a translocation with other chromoso...
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: Archives of Clinical Neuropsychology
سال: 2022
ISSN: ['1873-5843', '0887-6177']
DOI: https://doi.org/10.1093/arclin/acac060.154