Skip to main content
  • Home
  • COVID-19
  • Issues
    • Current Issue
    • All Issues
    • Online First
    • Supplement
    • CME
  • About
  • For Authors
    • Instructions for Authors
    • Submission Fee
    • Submit Manuscript
  • Podcasts

Two cases of isochromosome 18q syndrome

< Back to Listing

Share this Article

Singapore Med J 2007; 48(5): e146-e150
Two cases of isochromosome 18q syndrome

  • Abstract
  • PDF

Pal S, Siti MI, Ankathil R, Zilfalil BA
Correspondence: Dr Bin-Alwi Zilfalil, zilfalil@kb.usm.my

ABSTRACT
Patients with isochromosome 18q, a rare cytogenetic abnormality, also reported as Edwards syndrome, is the second most common autosomal trisomy. However, the phenotypic features and survival of these patients are not uniform and depend upon the portion of chromosomes getting duplicated or deleted. The survival of these children may be longer, hence a good cytogenetic diagnosis is a must. Morphological characteristics of isochromosome 18q are not yet fully delineated because of the rarity of the cases and as most cases are aborted medically or terminate spontaneously. We report two cases of isochromosome 18q, one male aged two years old and the other a male aged eight months old, and review the literature on this rare syndrome.

Keywords: autosomal trisomy, Edwards syndrome, isochromosome 18q, phenotype
Singapore Med J 2007; 48(5): e146–e150

http://smj.org.sg/sites/default/files/4805/4805cr8.pdf
×
POPULAR THIS MONTH
SingHealth Radiology Archives pictorial essay Part 1: cardiovascular, respiratory and neurological cases
A clinical approach to encephalopathy in children
Are migrant workers in Singapore receiving adequate healthcare? A survey of doctors working in public tertiary healthcare institutions
An approach to cervical lymphadenopathy in children

Around the Site

Home

About SMJ

For Reviewers

Sign Up for Alerts

Issues

Current Issue

All Issues

Online First

Supplement

CME

For Authors

Instructions for Authors

Submit Manuscript


Follow us on:
    

More Links

Contact Us

Copyright

Advertise

SMJ Forms

Privacy Policy

SMA Home

Copyright 2021. Singapore Medical Association. All Rights Reserved.