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Macrocephaly and chromosome disorders: a case report

P Drigo1, S Carrà, A M Laverda

  • 1Department of Pediatrics, University of Padua, Padova, Italy.

Brain & Development
|July 1, 1996
PubMed
Summary
This summary is machine-generated.

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A rare chromosome disorder, involving unbalanced translocation of chromosomes X and 7, can cause macrocephaly in infants. This finding is crucial for diagnosing infants with macrocephaly, scoliosis, and psychomotor delays.

Area of Science:

  • Genetics
  • Pediatrics
  • Clinical Case Study

Background:

  • Macrocephaly in infants necessitates a thorough differential diagnosis to identify underlying causes.
  • Common etiologies include hereditary, metabolic, osseous, and neurocutaneous disorders, as well as cerebral malformations.

Observation:

  • A case of infant macrocephaly was investigated after ruling out frequent causes.
  • Genetic analysis was performed to explore potential chromosomal abnormalities.

Findings:

  • An unbalanced de novo translocation, specifically t(X;7)(q13 or q13.2; q11.23 or q21.11), was identified.
  • This translocation results in partial trisomy of chromosome 7 long arm and partial monosomy of chromosome X long arm.

Implications:

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  • This rare chromosomal disorder should be considered in the differential diagnosis of infants presenting with macrocephaly.
  • Associated clinical features include scoliosis and non-progressive psychomotor retardation, aiding in early identification.