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Chromosome 11 long arm partial deletion: a new syndrome.

E Engel, C S Hirshberg, S B Cassidy

American Journal of Mental Deficiency

|January 1, 1976

Summary

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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.

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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.