Partial trisomy 10q in three unrelated patients

Area of Science:

• Genetics
• Clinical Genetics
• Human Genetics

Background:

• Chromosome 10 long arm (10q) trisomies are rare genetic conditions.
• These trisomies can lead to growth and psychomotor retardation, congenital anomalies, and dysmorphic features.

Observation:

• Three unrelated patients presented with growth/psychomotor retardation, multiple congenital anomalies, and dysmorphic features due to different 10q trisomies.
• Literature review and patient data suggest at least two distinct clinical syndromes associated with 10q trisomy.

Findings:

• The well-defined 10q trisomy syndrome is associated with specific clinical features.
• The common trisomic segment in patients with similar phenotypes, despite varying trisomic regions, is the distal bands 10q25 and 10q26.
• This suggests that the determinants for the 10q trisomy syndrome are located on distal bands 10q25 and 10q26, supporting the designation 'distal 10q trisomy syndrome'.
• Patients with proximal and/or middle 10q trisomies are rare and exhibit currently undefined clinical features.

Implications:

• The findings refine the understanding of chromosome 10 long arm trisomies.
• This research proposes a more precise nomenclature for a specific 10q trisomy syndrome.
• Further research is needed to define the clinical features associated with proximal and middle 10q trisomies.