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Related Experiment Videos

Mosaic partial trisomy 17q2.

P A King1, A Ghosh, M Tang

  • 1Department of Obstetrics and Gynaecology, University of Hong Kong.

Journal of Medical Genetics
|September 1, 1991
PubMed
Summary

Mosaic partial trisomy 17q2 in an infant presented unique features like frontal bossing and hexadactyly. Cytogenetic evaluation is key for understanding congenital abnormality pathogenesis.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Prenatal Diagnosis

Background:

  • Prenatal diagnosis of fetal anomalies prompted genetic evaluation.
  • Amniocentesis was performed due to polyhydramnios and ultrasound findings of craniofacial dysmorphology and limb shortening.

Observation:

  • An infant exhibited distinct phenotypic features associated with mosaic partial trisomy 17q2.
  • Observed features included frontal bossing, large mouth, brachyrhizomelia, and hexadactyly.

Findings:

  • Chromosomal mosaicism was confined to fetal tissues and amniotic fluid cells.
  • The placenta showed a normal chromosomal complement, indicating the abnormality arose post-differentiation.

Implications:

  • This case highlights the importance of comprehensive cytogenetic analysis of placental, fetal, and amniotic fluid cells.
  • Understanding the timing of chromosomal abnormalities is crucial for delineating the pathogenesis of congenital disorders.

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