Clinical delineation of 18q11-q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects

Molecular Genetics & Genomic Medicine
Kitiwan RojnueangnitNatini Jinawath

Abstract

Since the establishment of chromosomal microarrays in clinical practice, many new microdeletion/microduplication syndromes have been identified, including 18q11.2 microdeletion. Chromosome 18q deletion syndrome is commonly classified into distal deletion and a much rarer proximal interstitial deletion spanning the 18q11.2-q21.1 region. We report two new patients and review 27 additional cases in DECIPHER/ClinGen databases and four cases from the literature, with more proximal 18q deletions involving 18q11-q12 (band 1 only; 17.2-43.5 Mb position) deletion. Common presentations of 18q11-q12 deletions include developmental delay/intellectual disability (DD/ID) (82%); speech delay/autism/attention deficit and hyperactivity/other behavioral problems (30%); conotruncal heart defects (15%); and subtle/non-specific facial dysmorphism. The deletion in four out of five cases with cardiac defect was distal to GATA6, suggesting an alternative mechanism other than haploinsufficiency of GATA6 as an underlying cause of cardiac malformations. Precocious puberty with advanced skeletal age was first observed in one patient, suggesting a unique and expanded phenotype of proximal 18q deletion. When comparing genotype-phenotype correlations from th...Continue Reading

References

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May 23, 2013·American Journal of Medical Genetics. Part a·Peter H BuiFabiola Quintero-Rivera
Aug 15, 2014·PloS One·Bhoom SuktitipatNatini Jinawath
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Citations

Dec 22, 2020·The Journal of Pediatrics·Philip F Giampietro

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Software Mentioned

ClinGen
BlueFuse Multi
DECIPHER
Agilent Cytogenomics
Ensembl Resources

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