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Duplication 9q34 syndrome.

P W Allderdice, B Eales, H Onyett

    American Journal of Human Genetics
    |September 1, 1983
    PubMed
    Summary
    This summary is machine-generated.

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    A new chromosome syndrome, dup 9q34, is identified in children with specific genetic inversions. Affected individuals show developmental delays and distinct physical features, with prognosis varying by duplication length.

    Area of Science:

    • Human Genetics
    • Clinical Cytogenetics
    • Developmental Biology

    Background:

    • Recognition of a new chromosome syndrome, dup 9q34, emerged from studying affected children of carriers with an inverted insertion.
    • This syndrome is characterized by specific phenotypic, karyotypic, and developmental homologies.

    Observation:

    • Individuals with dup 9q34 exhibit mild psychomotor retardation, limited vocabulary, and hyperactivity in childhood.
    • Clinical features include low birth weight, joint contractures, arachnodactyly, and distinct facial anomalies like dolichocephaly and narrow palpebral fissures.
    • Cardiovascular and ocular systems are minimally affected, with common findings of erythema, murmurs, ptosis, and strabismus.

    Findings:

    • New culture and chromosome banding techniques allow classification of dup 9q34 phenotypes into two groups based on duplication length.

    Related Experiment Videos

  • Longer dup 9q duplications correlate with a higher likelihood of life-threatening congenital anomalies.
  • Shorter dup 9q34 duplications are associated with a less severe long-term prognosis and benefit from special education.

    • Implications:

    • Female carriers of the inv ins(9)(q22.1q34.3q34.1) have a significant risk (approximately 31%) of conceiving a child with dup 9q34 syndrome per pregnancy.
    • Early identification and genetic counseling are crucial for families with carriers of this chromosomal abnormality.
    • Understanding the genotype-phenotype correlation aids in predicting disease severity and planning appropriate interventions and support.