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[Monosomy 7qter (author's transl)].

C Turleau, J de Grouchy, F Perignon

    Annales De Genetique
    |January 1, 1979
    PubMed
    Summary
    This summary is machine-generated.

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    A new genetic study identified a terminal deletion on chromosome 7q35, a rare genetic abnormality. This finding helps define a new syndrome with distinct facial and physical features in infants.

    Area of Science:

    • Genetics
    • Clinical Dysmorphology
    • Pediatrics

    Background:

    • The identification of novel chromosomal abnormalities is crucial for understanding genetic disorders.
    • Delineating new syndromes aids in diagnosis and genetic counseling.

    Observation:

    • A 3-month-old infant presented with a peculiar cry, leading to genetic investigation.
    • A de novo terminal deletion on chromosome 7q35 (del(7)(q35)) was identified in the proband.

    Findings:

    • The study delineates a syndrome characterized by severe microcephaly with a flattened occiput, bulbous nose, and "double chin".
    • Affected individuals exhibit a broad thorax with widely spaced nipples, but no internal organ malformations.
    • Hageman factor (XII) levels were normal, and blood type was Jk(a+b+) in the proposita and parents.

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    Implications:

    • This research contributes to the growing knowledge of chromosomal abnormalities and their phenotypic manifestations.
    • The defined syndrome provides a basis for recognizing similar cases and offers insights into the genetic underpinnings of developmental disorders.
    • Further research can explore the specific genes within the deleted region 7q35 and their roles in development.