Implications of a Chr7q21.11 Microdeletion and the Role of the PCLO Gene in Developmental Delay
Journal Title: Sultan Qaboos University Medical Journal - Year 2013, Vol 13, Issue 2
Abstract
We report here a 4-year-old boy with global developmental delay who was referred for karyotyping and fragile X studies. A small interstitial deletion on chromosome 7 at band 7q21 was detected in all cells examined. Subsequent molecular karyotype analysis gave the more detailed result of a 6.3 Mb heterozygous deletion involving the interstitial chromosome region 7q21.11. In this relatively gene-poor region, the presynaptic cytomatrix protein, Piccolo (PCLO) gene appears to be the most likely candidate for copy number loss leading to a clinical phenotype. G-banded chromosome analysis of the parents showed this deletion was inherited from the father. Molecular karyotype analysis of the father’s genome confrmed that it was the same deletion as that seen in the son; however, the father did not share the severity of his son’s phenotype. Tis cytogenetically-visible deletion may represent another example of a chromosomal rearrangement conferring a variable phenotype on different family members.
Authors and Affiliations
Roberto L. Mazzaschi| Diagnostic Genetics,LabPLUS, Fern Ashton| Diagnostic Genetics,LabPLUS, Salim Aftimos| Northern Regional Genetic Service, Auckland City Hospital, Auckland, New Zealand, Alice M. George| Diagnostic Genetics,LabPLUS, Donald R. Love| Diagnostic Genetics,LabPLUS, School of Medical Sciences, University of Auckland, Auckland, New Zealand
Keywords
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- EP ID EP14349
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