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

Related Articles

The Epidemiology of Acute Coronary Syndrome in Oman Results from the Oman-RACE study

Objectives: This study aimed to evaluate the epidemiology and coronary risk factors of acute coronary syndrome (ACS) in Oman. Methods: Data were collected through a prospective, multinational, multicentre survey of con...

Knowledge and Attitudes Towards Clinical Trial Participation in Oman A cross-sectional study

Objectives: Clinical trials are prospective studies on human subjects designed to answer various clinical questions. However, only a limited number of clinical trials have been conducted in Oman. This study aimed to as...

Traumatic Acute Brain Herniation through the Ear in a Child Concealed compound fracture

A seven-year-old girl presented to Sultan Qaboos University Hospital, Oman, with a history of having been hit by a motor vehicle. After this, she had right-sided cerebrospinal fluid otorrhoea, and a week later, brain...

Recurrent Dermatofibrosarcoma Protuberans with Pigmentation and Myoid Differentiation

Dermatofibrosarcomas protuberans (DFSP) are rare low-grade tumours with various subtypes and usually occur among middle-aged adults. However, myoid differentiation is very rare. We report a 44-year-old woman who presente...

Re: Controversies in Odontogenic Tumours Review

We read with great interest the recent review article by Siwach et al. published in the August 2017 issue of SQUMJ.1 We congratulate the authors on their elaborative narrative review of the controversies regarding vario...

Download PDF file
  • EP ID EP14349
  • DOI -
  • Views 317
  • Downloads 7

How To Cite

Roberto L. Mazzaschi, Fern Ashton, Salim Aftimos, Alice M. George, Donald R. Love (2013). Implications of a Chr7q21.11 Microdeletion and the Role of the PCLO Gene in Developmental Delay. Sultan Qaboos University Medical Journal, 13(2), 306-310. https://www.europub.co.uk/articles/-A-14349