NDLI: A novel maternally-derived insertional translocation resulting in partial trisomy 4q13.2-q22.1 with complex translocation t(8;20) in a family with intellectual disability.

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A novel maternally-derived insertional translocation resulting in partial trisomy 4q13.2-q22.1 with complex translocation t(8;20) in a family with intellectual disability.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Assawamakin, Anunchai Wattanasirichaigoon, Duangrurdee Tocharoentanaphol, Chintana Waeteekul, Supaporn Tansatit, Montakarn Thongnoppakhun, Wanna Limwongse, Chanin
Description	Country affiliation: Thailand Author Affiliation: Assawamakin A ( Department of Immunology, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.)
Abstract	We characterized the chromosomal aberration in family with intellectual disability, including two affected children and their affected mother. Initial standard karyotypes of the three individuals showed an apparently balanced translocation of chromosomes 8 and 20. Using molecular cytogenetic techniques, we observed complex structural chromosomal aberration comprising of reciprocal translocation between chromosomes 8 and 20 with pericentric inversion (8p11.12q22.3) and insertion of chromosome 4 segments into both der(8) and der(20). In particular, the insertion of chromosome 4 was complex. Two segments (4q13.2-q13.3 and 4q21.21-q22.1) were inserted into the der(8)t(8;20) breakpoint and one segment (4q13.3-q21.21) into the der(20)t(8;20) breakpoint. Both children inherited two normal chromosomes 4 from their parents and the der(8) and der(20) from the mother, resulting in partial trisomy of 4q13.2-q22.1. Interestingly, the mother, in addition to the same complex insertions and inversion, was founded to have a deletion of 4q13.2-q22.1 in one of her chromosomes 4, yielding no genetic imbalance but with potential disruption of intellectual dysfunction-related gene(s) at the breakpoints as the cause of her intellectual impairment. This family is the third case report of an insertional translocation mechanism causing partial trisomy 4q syndrome. Our study demonstrates that an insertion of an extra chromosomal segment, not primarily involving in translocation breakpoints, which results in partial trisomy, can be an unapparent cause of the abnormal phenotypes.
File Format	HTM / HTML
ISSN	15524825
Issue Number	4
Volume Number	158A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2012-04-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Chromosomes, Human, Pair 20 Genetics Chromosomes, Human, Pair 4 Chromosomes, Human, Pair 8 Translocation, Genetic Trisomy Adult Child Child, Preschool Chromosome Aberrations Chromosome Mapping Female Humans Intellectual Disability Karyotyping Male Mutagenesis, Insertional Case Reports Journal Article Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

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