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Familial intellectual disability as a result of a derivative chromosome 22 originating from a balanced translocation (3;22) in a four generation family.

ABSTRACT: Background:Balanced reciprocal translocation is usually an exchange of two terminal segments from different chromosomes without phenotypic effect on the carrier while leading to increased risk of generating unbalanced gametes. Here we describe a four-generation family in Shandong province of China with at least three patients sharing severe intellectual disability and developmental delay resulting from a derivative chromosome 22 originating from a balanced translocation (3;22) involving chromosomes 3q28q29 and 22q13.3. Methods:The proband and his relatives were detected by using karyotyping, chromosome microarray analysis, fluorescent in situ hybridization and real-time qPCR. Results:The proband, a 17 month-old boy, presented with severe intellectual disability, developmental delay, specific facial features and special posture of hands. Pedigree analysis showed that there were at least three affected patients. The proband and other two living patients manifested similar phenotypes and were identified to have identically abnormal cytogenetic result with an unbalanced translocation of 9.0 Mb duplication at 3q28q29 and a 1.7Mb microdeletion at 22q13.3 by karyotyping and chromosome microarray analysis. His father and other five relatives had a balanced translocation of 3q and 22q. Fluorescence in situ hybridization and real-time qPCR definitely validated the results. Conclusions:The abnormal phenotypes of the proband and his two living members in four generations of the family confirmed the 3q duplication and 22q13.3 deletion inherited from familial balanced translocation. This is the first report of familial balanced reciprocal translocation involving chromosomes 3q28q29 and 22q13.3 segregating through four generations.

SUBMITTER: Zhang K

PROVIDER: S-EPMC5819188 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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Familial intellectual disability as a result of a derivative chromosome 22 originating from a balanced translocation (3;22) in a four generation family.

Zhang Kaihui K Huang Yan Y Dong Rui R Yang Yali Y Wang Ying Y Zhang Haiyan H Zhang Yufeng Y Gai Zhongtao Z Liu Yi Y

Molecular cytogenetics 20180220

<h4>Background</h4>Balanced reciprocal translocation is usually an exchange of two terminal segments from different chromosomes without phenotypic effect on the carrier while leading to increased risk of generating unbalanced gametes. Here we describe a four-generation family in Shandong province of China with at least three patients sharing severe intellectual disability and developmental delay resulting from a derivative chromosome 22 originating from a balanced translocation (3;22) involving ...[more]

PMID: 29467824

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Project description:Autism spectrum disorder (ASD) is highly heritable, yet how its familial risk and heritability may vary by cognitive ability is not well understood. In this population-based cohort study, we examined the familial risk and heritability of ASD with and without co-occurring intellectual disability (ID). We estimated odds ratios and heritability of ASD with ID (ASD+ID) and ASD without ID (ASD-ID) using register-based diagnosis data of 567,436 index persons born in 1984-2009 in Stockholm County, Sweden, and their parents, siblings, cousins, aunts, and uncles. The familial risk profile exhibited differences between ASD-ID and ASD+ID, most notably for index persons with affected parents. For example, for an index person who had at least one parent with ASD, the child's odds of ASD-ID and ASD+ID (95% confidence interval (CI)) increased by 16.2 (14.2-18.6) and 7.4 (5.5-10.0) folds, respectively. The more closely related a family member with ASD was, the greater the observed risk was of ASD in the index person, especially for ASD-ID. The broad-sense heritability (95% CI) for ASD - ID and ASD+ID were 64.6% (46.0-100.0%) and 33.4% (14.4-58.4%), respectively. Familial risk and heritability of ASD may vary by intellectual ability, which implies that risk factors between these ASD phenotypes may differ. Our findings from the heritability analysis and familial risk analysis suggest that ASD-ID may have a greater genetic basis than ASD+ID, although this should be verified in future studies. LAY SUMMARY: Autism spectrum disorder (ASD) is highly heritable, yet how its familial risk and heritability may vary by cognitive ability is not well-understood. In a population-based cohort study on families of 567,436 index persons using Swedish registers data, we found that the familial risk profile differed between ASD with and without intellectual disability. Our findings from the heritability analysis and familial risk analysis suggest that ASD-ID may have a greater genetic basis than ASD+ID, although this should be verified in future studies.

Dataset Information

Familial intellectual disability as a result of a derivative chromosome 22 originating from a balanced translocation (3;22) in a four generation family.

Publications

Familial intellectual disability as a result of a derivative chromosome 22 originating from a balanced translocation (3;22) in a four generation family.

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