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An additional case of 9p syndrome
Acta Anthropogenetica
|January 1, 1983
Summary
This study presents a case of 9p- syndrome in an 18-month-old girl, highlighting typical clinical features. Early clinical recognition is crucial as small deletions on chromosome 9 short arm can be missed.
Area of Science:
- Genetics
- Pediatrics
- Clinical Medicine
Background:
- 9p- syndrome, also known as the deletion on the short arm of chromosome 9, is a rare genetic disorder.
- It is characterized by a constellation of distinctive facial features and developmental abnormalities.
Observation:
- An 18-month-old girl presented with hallmark clinical manifestations of 9p- syndrome.
- These included significant psychomotor development delay, muscle hypotonia, trigonocephaly, up-slanting palpebral fissures, a short nose with anteverted nostrils, a long philtrum, and low-set, hypoplastic auricles.
Findings:
- Cytogenetic analysis using G- and R-banding identified the breakpoint at the characteristic 9p22 band.
- This confirms the specific chromosomal deletion associated with the observed phenotype.
Implications:
- The case underscores the importance of clinical recognition of 9p- syndrome.
- Prompt diagnosis is vital, as subtle deletions in the 9p region can be easily overlooked during genetic evaluations.