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[Partial trisomy of the long arm of chromosome 6. A clinical case]

P Dellacasa1, P Bonanni, R Guerrini

  • 1Istituto Scientifico Stella Maris, Università degli Studi di Pisa.

Minerva Pediatrica
|December 1, 1993
PubMed

Insights

This study details a child with partial trisomy 6q, characterized by distinct facial features and developmental delays. The findings suggest these somatic characteristics may represent a distinct syndrome, though visceral and cerebral impact varies.

Area of Science:

  • Genetics
  • Clinical Medicine
  • Developmental Biology

Background:

  • Partial trisomy of chromosome 6, specifically duplication of the 6q22.36-qter region, arises from maternal malsegregation.
  • This genetic imbalance can lead to a recognizable pattern of congenital anomalies and developmental issues.

Observation:

  • The case involves a child with microbrachycephaly, prominent forehead, hypertelorism, exophthalmos, low-set ears, and other dysmorphic features.
  • Growth parameters including weight, height, and head circumference were below the 3rd percentile.
  • Brain imaging revealed a mildly enlarged ventricular system and subarachnoid spaces with cortical dysmorphism.

Findings:

  • The observed phenotype aligns with previously reported cases of dup (6q), suggesting a potential syndrome.
  • While somatic features are consistent, the degree of visceral and cerebral impairment shows significant variability.
  • The patient exhibited good general health without internal organ malformations.

Implications:

  • The consistent physical characteristics in dup (6q) cases support the recognition of a distinct genetic syndrome.
  • Further research is needed to understand the variable expressivity of visceral and cerebral involvement in 6q duplication.
  • This case contributes to the understanding of chromosomal abnormalities and their phenotypic manifestations in pediatric populations.

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