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Related Experiment Videos

Partial monosomy 11q and trisomy 12q: variable expression in two siblings.

T Lukusa1, M Holvoet, J R Vermeesch

  • 1Center for Human Genetics, University of Leuven, Belgium.

Genetic Counseling (Geneva, Switzerland)
|July 23, 2003
PubMed
Summary
This summary is machine-generated.

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Two siblings with a terminal 11q deletion and distal 12q duplication showed discordant phenotypes. This highlights variable clinical expression of chromosomal imbalances, impacting development and physical features differently.

Area of Science:

  • Genetics
  • Human Genetics
  • Clinical Genetics

Background:

  • Balanced translocation t(11:12)(q23:q24.1) in a mother led to unbalanced segregation.
  • Two siblings inherited a terminal 11q deletion and a distal 12q duplication.

Observation:

  • The index patient (female) presented with growth retardation, hypotonia, developmental delay, velopharyngeal insufficiency, ventricular septal defect, and autistic tendencies.
  • Facial dysmorphism included microcephaly, hypertelorism, large eyes, strabismus, broad nasal bridge, retrognathism, and large ears.
  • The second sibling (male) exhibited low birthweight, developmental retardation, autistic tendencies, facial hypotonia, and cryptorchidism.

Findings:

  • Discordant phenotypes were observed in siblings with the same chromosomal imbalance.

Related Experiment Videos

  • Variable expressivity of the 11q deletion and 12q duplication impacts physical features and developmental outcomes.
  • Autistic tendencies and developmental delay were common features, but physical anomalies varied significantly.

    • Implications:

    • Understanding the variable expressivity of chromosomal aneuploidies is crucial for genetic counseling.
    • Further research is needed to elucidate the specific contributions of 11q deletion and 12q duplication to distinct phenotypes.
    • This case underscores the complexity of genotype-phenotype correlations in chromosomal abnormalities.