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Partial monosomy 7q

Rajitha Ponnala1, Ashwin Dalal

  • 1Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Nampally, Hyderabad, Andhra Pradesh 500 001, India.

Indian Pediatrics
|June 10, 2011
PubMed

Insights

This study details a rare genetic condition, partial monosomy 7q and partial trisomy 14q, in a young boy. The findings highlight similarities to previously documented 7q deletion cases.

Area of Science:

  • Human Genetics
  • Clinical Cytogenetics
  • Pediatric Genetics

Background:

  • Chromosomal abnormalities can lead to complex congenital disorders.
  • Understanding unbalanced rearrangements is crucial for diagnosing genetic syndromes.
  • Partial monosomy 7q and partial trisomy 14q represent rare chromosomal events.

Observation:

  • A 4-year-old male presented with microcephaly, prominent eyes, arched eyebrows, malformed ears, and overlapping toes.
  • Clinical examination revealed distinct dysmorphic features.
  • The patient's phenotype suggested an underlying genetic cause.

Findings:

  • Karyotyping revealed an unbalanced chromosomal rearrangement.
  • The specific abnormality identified was partial monosomy 7q (7q33-->qter) and partial trisomy 14q (14q32.2-->qter).
  • The observed clinical features were consistent with previously reported cases of 7q deletion syndrome.

Implications:

  • This case expands the understanding of genotype-phenotype correlations in chromosomal disorders.
  • Accurate genetic diagnosis is essential for appropriate clinical management and genetic counseling.
  • Further research into similar unbalanced rearrangements may reveal novel genetic syndromes.

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