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Updated: Sep 10, 2026
Chromosome Replicating Timing Combined with Fluorescent In situ Hybridization
Published on: December 10, 2012
Two patients with chromosome 6q terminal deletions with breakpoints at q24.3 and q25.3
1Department of Human Development and Welfare, Osaka City University, Japan.
Insights
Two patients with de novo terminal deletion of 6q (del(6q)) syndrome presented with intellectual disability, craniofacial and cerebral anomalies, and heart defects. Terminal deletion of 6q23 or 6q25 bands appears critical for del(6q) syndrome.
Area of Science:
- Genetics
- Medical Genetics
- Human Genetics
Background:
- De novo terminal deletions of chromosome 6 long arm (del(6q)) are rare chromosomal abnormalities.
- These deletions can lead to a spectrum of developmental abnormalities, collectively known as del(6q) syndrome.
Observation:
- This report details two pediatric cases with de novo terminal 6q deletions: a boy with 46,XY,del(6)(q24.3) and a girl with 46,XX,del(6)(q25.3).
- Both patients exhibited significant developmental delays, minor craniofacial and cerebral anomalies, and cardiac defects.
Findings:
- Characteristic manifestations included imperforate anus in the first patient and retinitis proliferans with a triatrial heart in the second.
- Comparison with 18 previously reported cases suggests that terminal deletions specifically involving the 6q23 or 6q25 bands are crucial for the core features of del(6q) syndrome.
Implications:
- Identifying critical deletion regions aids in understanding genotype-phenotype correlations in del(6q) syndrome.
- These findings can improve genetic counseling and diagnostic approaches for families affected by this rare chromosomal disorder.
Abstract:
We report on 2 patients with de novo terminal deletion of 6q. The first was a 4-month-old boy whose karyotype was 46,XY,del(6)(q24.3); the second a 2-year-old girl whose karyotype was 46, XX, del(6)(q25.3). The main anomalies in both patients included mental retardation, minor craniofacial and cerebral anomalies, and cardiac defects. The characteristic manifestations were imperforate anus in the first patient, and retinitis proliferans and a triatrial heart in the other. Comparison of clinical findings of our 2 patients with those of 18 previously reported patients with similar phenotypes suggests that terminal deletion of the 6q23 or 6q25 band is critical in producing the main anomalies of del(6q) syndrome.
