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A case of monosomy 21.

B Garzicić1, M Guć-Sćekić, G Pilić-Radivojević

  • 1Institut za zdravstvenu zastitu majke i deteta Srbije, Laboratorija za citogenetiku, Novi Beograd, Yugosiavia.

Annales De Genetique
|January 1, 1988
PubMed
Summary

A new case of monosomy 21, a rare genetic disorder, was identified in a male infant. This condition presents with distinct facial features, developmental delays, and congenital heart defects, despite normal parental karyotypes.

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Area of Science:

  • Genetics
  • Human Physiology
  • Developmental Biology

Background:

  • Monosomy 21 is a rare chromosomal abnormality.
  • Understanding its clinical manifestations is crucial for early diagnosis and intervention.

Observation:

  • A case of monosomy 21 was identified in a newborn male.
  • The infant exhibited characteristic features including antimongoloid eye slants, low-set ears, flat nasal bridge, hypoplastic nipples, cardiac anomalies, hypotonia, and psychomotor retardation.

Findings:

  • The observed clinical features align with previously reported cases of monosomy 21.
  • Karyotyping confirmed the condition in the infant, while parental karyotypes were normal, suggesting a de novo mutation or mosaicism.

Implications:

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  • This case contributes to the understanding of the monosomy 21 phenotype.
  • Early identification of monosomy 21 enables timely management of associated health issues and developmental support.
  • Further research into the genetic mechanisms underlying monosomy 21 is warranted.