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Mol Cytogenet. 2018 Nov 6;11:57. doi: 10.1186/s13039-018-0406-0. eCollection 2018.

Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation.

Author information

1
1Division of Human Genetics and Genome Research, Department of Human Cytogenetics, National Research Centre, 33-El-Bohooth St. Dokki, Cairo, 12311 Egypt.
2
2Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt.

Abstract

Background:

Microdeletion of 1q43q44 causes a syndrome characterized by intellectual disability (ID), speech delay, seizures, microcephaly (MIC), corpus callosum abnormalities (CCA) and characteristic facial features. Duplication of 4q is presented with minor to severe ID, MIC and facial dysmorphism. We aimed to verify the correlation between genotype/phenotype in a patient with 1q43q44 deletion associated with 4q32.1q35.2 duplication.

Case presentation:

We report on a 3 year-old female patient with delayed motor and mental milestones, MIC and facial dysmorphism. She is a child of non-consanguineous parents and no similarly affected family members. CT brain showed abnormal gyral patterns, hypogenesis of corpus callosum and bilateral deep Sylvian fissure. Electroencephalogram showed frontotemporal epileptogenic focus. Her karyotype was revealed as 46,XX,add(1)(q44). Fluorescence in situ hybridization (FISH) using whole chromosome paint (WCP1) and subtelomere 1q revealed that the add segment was not derived from chromosome 1 and there was the deletion of subtelomere 1q. Multiple ligation probe amplification (MLPA) subtelomere kit revealed the deletion of 1q and duplication of 4q. Array CGH demonstrated the 6.5 Mb deletion of 1q and 31 Mb duplication of chromosome 4q.

Conclusion:

The phenotype of our patient mainly reflects the effects of haploinsufficiency of AKT3, HNRNPU, ZBTB18 genes associated with duplication of GLRA3, GMP6A, HAND2 genes. Patients presented with ID, seizures, MIC together with CCA are candidates for prediction of 1q43q44 microdeletion and cytogenomic analysis.

KEYWORDS:

Chromosome 1q43-q44 deletion syndrome; Chromosome 4 duplication syndrome; Hypogenesis of corpus callosum; Microcephaly; Multiple abnormalities

Conflict of interest statement

Department of Human Cytogenetics. Human Genetics and Genome Research Division. Coordinator of the team of human cytogenetics in the Centre of Scientific Excellence for Human Genetics. National Research Centre, Egypt.The father agreed for the patient’s data and photos to be published in the periodic scientific journals. Parents had the explanation of the study and had been given the chance to make inquiries. A copy of the written consent is available for review upon request.The authors declared that they have no competing interest.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

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