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Updated: Jul 11, 2026
07:42
Chromosome Preparation From Cultured Cells
Published on: January 28, 2014
Chromosome 11 long arm partial deletion: a new syndrome
American Journal of Mental Deficiency
|January 1, 1976
Summary
Chromosome 11q deletion (11q-) in a young girl is linked to developmental issues. This genetic defect is associated with intellectual disability, speech problems, trigonocephaly, and growth failure.
Area of Science:
- Genetics
- Clinical Medicine
- Human Development
Background:
- Chromosome abnormalities can lead to significant congenital anomalies and developmental disorders.
- The 11q deletion syndrome is a rare chromosomal disorder characterized by specific phenotypic features.
Observation:
- A 4.3-year-old girl presented with a deletion of the distal end of chromosome 11's long arm (11q-), identified via G-banding.
- Her phenotype was compared to four previously reported cases with similar 11q deletions.
Findings:
- The study suggests a consistent clinical picture associated with 11q deletions.
- Key features include variable intellectual disability, significant speech deficits, trigonocephaly (triangular head shape), and pronounced growth failure.
Implications:
- Identifying specific chromosomal deletions like 11q- aids in understanding genotype-phenotype correlations.
- This research contributes to the diagnosis and genetic counseling for individuals with 11q deletion syndrome.
- Further research can elucidate the precise genetic mechanisms underlying the observed developmental deficits.
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