A unique case of a discontinuous duplication 3q26.1-3q28 resulting from a segregation error of a maternal complex chromosomal rearrangement involving an insertion and an inversion.
Until now, few cases of partial trisomy of 3q due to segregation error of parental balanced translocation and segregation of a duplicated deficient product resulting from parental pericentric inversion have been reported so far. Only five cases of chromosomal insertion malsegregation involving 3q region are available yet, thus making it relatively rare. In this case report, we are presenting a unique case of discontinuous partial trisomy of 3q26.1-q28 region which resulted from a segregation error of two insertions involving 3q26.1 to 3q27.3 and 3q28 regions with ~21Mb and ~2Mb sizes, respectively. The maternally inherited insertion was cytogenetically characterized as der(8)(8pter→8p22::3q26→3q27.3::3q28→3q28::8p22→8qter) and the patient's major clinical features involved Dandy Walker malformation, sub-aortic ventricular septal defect, upslanting palpebral fissures, clinodactyly, hirsutism, and prominent forehead. Besides, a review of the literature involving cases with similar chromosomal imbalances and cases with "3q-duplication syndrome" is also provided.
['Rodríguez|Laura|L|', 'Bhatt|Samarth S|SS|', 'García-Castro|Mónica|M|', 'Plasencia|Ana|A|', 'Fernández-Toral|Joaquín|J|', 'Abarca|Elena|E|', 'de Bello Cioffi|Marcelo|M|', 'Liehr|Thomas|T|']
D000015:Abnormalities, Multiple D001921:Brain D002871:Chromosome Banding D007446:Chromosome Inversion D002893:Chromosomes, Human, Pair 3 D002898:Chromosomes, Human, Pair 8 D055028:Comparative Genomic Hybridization D005260:Female D006801:Humans D017404:In Situ Hybridization, Fluorescence D007231:Infant, Newborn D016254:Mutagenesis, Insertional D010641:Phenotype D014057:Tomography, X-Ray Computed D014178:Translocation, Genetic D014314:Trisomy
Dandy Walker malformation ventricular septal defect 3q-duplication syndrome BAC DD DWM FISH ID MCB Molecular cytogenetics OFC P VSD array comparative genomic hybridization array-CGH bacterial artificial chromosomes developmental delay fluorescence in situ hybridization intellectual disability multicolor banding technique occipitofrontal circumference percentile subcenM-FISH subcentromere-specific multicolor FISH