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Related Experiment Videos

Distal 11q deletion: a specific clinical entity.

J P Fryns1, A Kleczkowska, E Smeets

  • 1Centre for Human Genetics, Leuven, Belgium.

Helvetica Paediatrica Acta
|October 1, 1987
PubMed
Summary

This study details a male newborn with a deletion on chromosome 11q. The findings link specific deletions to characteristic craniofacial changes and unique anomalies, advancing understanding of distal 11q monosomy syndrome.

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Area of Science:

  • Genetics
  • Clinical Genetics
  • Human Genetics

Background:

  • Distal 11q monosomy syndrome is a rare chromosomal disorder.
  • Characterized by a range of developmental abnormalities.
  • Understanding genotype-phenotype correlations is crucial for diagnosis and management.

Observation:

  • A male newborn presented with 46,XY,del(11)(q23.1----qter).
  • Exhibited typical craniofacial features: trigonocephaly, short nose with upturned nares, large mouth with downturned corners.
  • Displayed additional anomalies: extremely short neck, accessory nipples, and camptodactyly of all fingers.

Findings:

  • The deletion of the 11q24.1 subband is essential for the characteristic phenotype of distal 11q monosomy syndrome.
  • Additional anomalies observed in this case are attributed to the deletion of the more proximal 11q23 band.
  • This case highlights a refined understanding of the critical regions involved in 11q deletion syndrome.

Implications:

  • Provides critical genotype-phenotype correlation data for 11q deletion syndrome.
  • Aids in more precise genetic counseling and prenatal diagnosis.
  • Contributes to the broader knowledge of chromosomal abnormalities and their impact on development.

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