Chromosome Disorders & their Diagnosis

What is a Chromosome Disorder?

A Chromosome Disorder is a general term to reflect individuals whose chromosomes deviate from the usual 46, XX in a female and 46, XY in a male. 

People with chromosome disorders can have structural rearrangements of the chromosomes of which they are unaware until they reproduce. 

Why is it important to know if you have Chromosome Disorder ?

Due to the fact that structural chromosomal rearrangements are often associated with a high risk of abnormal chromosomes in offspring and the attendant conditions of birth defect and developmental disorders, the specialist examination of chromosomes is warranted in many cases of stillbirth and recurrent miscarriage.

How We help?

A. Take a detailed family history

Often detailed family history will reveal unsuspected evidence of these unrecognized conditions. 

B. Chromosome Testing

Chromosome abnormalities resulting in a loss or gain of chromosomal material are a frequent finding in patients with developmental abnormality, including developmental delay or delayed milestones. The analysis of chromosomes, whether by 

  • G banding

  • FISH

  • Comparative Microarray Hybridisation or 

  • other specialized modality of evaluation

all tailored to individual case circumstance, is routine in our clinic. 

C. Interpret the Tests and Advise on Management of the Results

  • The interpretation of the above chromosomes tests

  • communicating the results to patients and their doctors, 

  • explaining the findings and the implications of those findings 

  • helping offer screening tests in pregnancy, or 

  • interpretating screening tests, and 

  • advising on more detailed further measures, which may benefit the patient

  • identifying potential risks to other family members


NOTE : Additional chromosomes (trisomy) are a hazard of pregnancy in older women (>35) and many new measures are offered as reassurance against such a possible outcome. However, the interpretation of such screening measures can be difficult for nonspecialist clinics and a detailed and informed understanding of the nature of chromosomal disorders can assist patients in their comprehension of their personal risk of chromosomal abnormality.