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Severe anomalies associated with ring chromosome 7.

L G Biesecker1, B Cox, T W Glover

  • 1Department of Pediatrics and Communicable Diseases, University of Michigan Medical School, Ann Arbor 48109.

American Journal of Medical Genetics
|September 15, 1991
PubMed
Summary

A newborn presented with polyasplenia sequence, growth retardation, and nevi, exhibiting mosaicism for ring chromosome 7. The infant

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Area of Science:

  • Genetics
  • Developmental Biology
  • Pediatrics

Background:

  • Mosaicism for ring chromosome 7 is a rare cytogenetic abnormality.
  • Ring chromosome 7 can lead to a spectrum of developmental abnormalities.
  • Previous cases of ring chromosome 7 mosaicism have presented with distinct phenotypes.

Observation:

  • A neonate was diagnosed with polyasplenia sequence, intrauterine growth retardation, cutaneous nevi, and minor anomalies.
  • Genetic analysis revealed mosaicism for ring chromosome 7 in this infant.
  • The patient's constellation of anomalies was atypical compared to previously reported cases.

Findings:

  • Mosaicism for ring chromosome 7 can result in a highly variable and unique phenotypic presentation.
  • The specific breakpoints and distribution of mosaicism may influence the observed anomalies.
  • This case expands the known spectrum of clinical manifestations associated with ring chromosome 7.

Implications:

  • Further research is needed to understand the genotype-phenotype correlations in ring chromosome 7 mosaicism.
  • This case highlights the importance of comprehensive genetic evaluation in infants with complex congenital anomalies.
  • Understanding rare chromosomal abnormalities like ring chromosome 7 mosaicism is crucial for accurate diagnosis and genetic counseling.

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