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Partial monosomy for chromosome 22 in a girl with mental retardation
Y P Yong1, L A Knight, M H Yong
1Department of Neonatology, Singapore General Hospital, Singapore.
Singapore Medical Journal
|February 1, 1997
Insights
This study details a Chinese girl with partial monosomy 22q13.2, a chromosomal condition. This genetic abnormality resulted in global developmental delay and distinct physical features.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- Partial monosomy of the long arm of chromosome 22 (22q13.2 deletion syndrome) is a rare chromosomal disorder.
- Genetic abnormalities can lead to complex developmental and physical manifestations.
Observation:
- A 5-year-old Chinese girl presented with a karyotype of 46,XX/46,XX,del (22) (q13.2).
- The patient exhibited global developmental delay, a significant clinical feature.
Findings:
- Key clinical features included seizures and failure-to-thrive.
- Distinct physical characteristics were observed, such as prominent ears, a long philtrum, and abnormal skin pigmentation on the face and limbs.
Implications:
- This case highlights the phenotypic variability associated with 22q13.2 deletion syndrome.
- Understanding such genetic conditions is crucial for accurate diagnosis and early intervention in pediatric developmental disorders.
Abstract:
This report describes a 5-year 6-month-old Chinese girl with partial monosomy for the long arm of chromosome 22. The karyotype was 46,XX/46,XX,del (22) (q13.2). She presented with global developmental delay. Clinical features include seizures, failure-to-thrive, prominent ears, long philtrum and abnormal skin pigmentation on the face and limbs.