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The 11q- syndrome with mosaic partial deletion of 11q

Y Ishida1, N Watanabe, Y Ishihara

  • 1Department of Pediatrics, Ehime University School of Medicine, Japan.

Acta Paediatrica Japonica : Overseas Edition
|December 1, 1992
PubMed

Insights

This report details a rare case of mosaic 11q- syndrome in a female infant. The study highlights congenital glaucoma as a novel complication and identifies a critical region for 11q- syndrome.

Area of Science:

  • Genetics
  • Pediatrics
  • Medical Case Reports

Background:

  • 11q- syndrome is a rare chromosomal disorder characterized by a partial deletion on the long arm of chromosome 11.
  • The syndrome typically presents with growth retardation, developmental delay, and characteristic facial features.

Observation:

  • A female infant presented with congenital glaucoma, trigonocephaly, multiple minor anomalies, and growth retardation at 1 month of age.
  • Initial G-banding analysis did not reveal chromosomal abnormalities.
  • High-resolution banding identified a mosaic karyotype: 46,XX,del(11)(q23.3 q24.2)/46,XX,del(11)(q23.3 q25).

Findings:

  • This is the second reported case of mosaic 11q- syndrome.
  • The identified critical region for 11q- syndrome is suggested to be 11q23.3-11q24.2.
  • Congenital glaucoma is reported for the first time as a complication of 11q- syndrome.

Implications:

  • This case expands the known phenotypic spectrum of 11q- syndrome.
  • The findings may aid in refining the critical region associated with 11q- syndrome.
  • The association with congenital glaucoma warrants further investigation in patients with 11q- syndrome.

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