Folate sensitive site at 10q23 and its expression as a deletion

Area of Science:

• Cytogenetics
• Human Genetics
• Endocrinology

Background:

• Chromosomal abnormalities can lead to various clinical manifestations.
• Mosaicism involving sex chromosomes and autosomes presents diagnostic challenges.
• Fragile sites are specific points on chromosomes prone to breakage.

Purpose of the Study:

• To report a unique case of chromosomal mosaicism with a 10q deletion.
• To investigate the etiology of the 10q deletion in the context of clinical findings.
• To explore the potential association between fragile sites and in vivo folate status.

Main Methods:

• Karyotyping to identify chromosomal abnormalities.
• Clinical evaluation for associated symptoms like hypothyroidism.
• Biochemical assays to assess folate levels.
• Molecular analysis to characterize the fragile site.

Main Results:

• The patient presented with 45,X/46,XX/46,XX,10q- mosaicism.
• Clinical features included hypothyroidism and low red cell folate.
• The 10q- deletion was identified as an extreme expression of the folate-sensitive fragile site at 10q23.

Conclusions:

• A potential association exists between the folate-sensitive fragile site at 10q23 and the patient's in vivo folate status.
• This case highlights the importance of considering folate metabolism in patients with specific chromosomal aberrations.
• Further research is warranted to elucidate the mechanisms linking fragile sites and folate levels.