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6q1 monosomy: a distinctive syndrome.

C Turleau1, G Demay, M O Cabanis

  • 1INSERM U.173, UA.119 CNRS, Hôpital Necker-Enfants-Malades, Paris, France.

Clinical Genetics
|July 1, 1988
PubMed
Summary

A new syndrome associated with a deletion on chromosome 6 (del 6q) has been identified. Key features include severe intellectual disability, distinctive facial features, and limb abnormalities.

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Area of Science:

  • Genetics
  • Clinical Medicine
  • Developmental Biology

Background:

  • The genetic basis of many developmental syndromes remains incompletely understood.
  • Chromosome 6 deletions (del 6q) have been associated with various congenital anomalies.

Observation:

  • A de novo deletion on chromosome 6 (del 6q14q16.2) was identified in a female infant.
  • Five additional cases of del 6q from existing literature were analyzed.

Findings:

  • A distinct syndrome characterized by severe mental retardation, round face with full cheeks, upslanting palpebral fissures, short neck, umbilical hernia, and malpositioned feet with syndactyly II-III was delineated.
  • Characteristic dermatoglyphics, including an excess of whorls and clinodactyly of the Vth finger, were noted.

Implications:

  • This delineation aids in the diagnosis and understanding of del 6q syndrome.
  • Further research into the specific genes within the deleted region can elucidate the molecular mechanisms underlying these clinical features.

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