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Partial trisomy 2p.

S M Pueschel1, P S Scola, T Mendoza

  • 1Department of Pediatrics, Rhode Island Hospital, Brown University Program in Medicine, Providence.

Journal of Mental Deficiency Research
|September 1, 1987
PubMed
Summary
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A child presented with developmental delays, short stature, heart defects, and distinctive facial features. Genetic analysis revealed partial trisomy 2p, a condition involving an extra segment of chromosome 2.

Area of Science:

  • Genetics
  • Pediatrics
  • Developmental Biology

Background:

  • Genetic translocations can lead to developmental abnormalities in children.
  • Accurate karyotyping is crucial for diagnosing complex genetic disorders.

Observation:

  • A young girl exhibited developmental delays, short stature, congenital heart disease, and dysmorphic facial features.
  • Chromosome analysis identified an unbalanced translocation resulting in trisomy for the distal portion of chromosome 2's short arm (2p21-2pter).

Findings:

  • The patient's karyotype revealed trisomy 2p, a condition associated with a specific set of clinical features.
  • A balanced reciprocal translocation, t(X;2)(q28;p21), was identified in the mother, indicating a familial genetic predisposition.

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Implications:

  • This case highlights the phenotypic spectrum associated with partial trisomy 2p.
  • Understanding the genetic basis of such conditions is vital for genetic counseling and clinical management.