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Related Experiment Videos

Interstitial duplication 19p

R F Stratton1, B R DuPont, A S Olsen

  • 1South Texas Genetics Center, University of Texas Health Science Center, San Antonio, USA.

American Journal of Medical Genetics
|July 17, 1995
PubMed
Summary
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A rare interstitial duplication of 19p (19p13.13-p13.2) was identified in a 9-month-old girl. This genetic finding correlated with developmental delay and multiple congenital anomalies, including heart defects.

Area of Science:

  • Genetics
  • Pediatrics
  • Developmental Biology

Background:

  • Interstitial duplications of chromosome 19p are rare genetic rearrangements.
  • These duplications can lead to a spectrum of developmental and congenital anomalies.
  • Accurate characterization of chromosomal abnormalities is crucial for understanding their phenotypic consequences.

Purpose of the Study:

  • To report a case of a 9-month-old female with an interstitial duplication of 19p.
  • To detail the associated developmental delay and multiple congenital anomalies.
  • To confirm the specific chromosomal duplication using molecular cytogenetics.

Main Methods:

  • Clinical examination and assessment of dysmorphic features.
  • Echocardiographic evaluation for congenital heart defects.

Related Experiment Videos

  • Fluorescent in situ hybridization (FISH) using chromosome 19-specific probes.

    • Main Results:

    • The patient presented with developmental delay and multiple anomalies: bifrontal prominence, obtuse frontonasal angle, short columella, additional midline philtral pillar, midline tongue ridge, mental symphysis ridge, and complex congenital heart disease.
    • Congenital heart defects included severe branch pulmonary artery stenosis, secundum atrial septal defect (ASD), and multiple ventricular septal defects (VSDs).
    • FISH analysis confirmed a direct duplication of chromosome 19p bands 19p13.13 and 19p13.2.

    Conclusions:

    • Interstitial duplication of 19p13.13-p13.2 is associated with significant developmental delay and a pattern of congenital anomalies.
    • The identified duplication provides further evidence for genotype-phenotype correlations in chromosomal abnormalities.
    • This case highlights the importance of detailed clinical evaluation and molecular cytogenetics in diagnosing rare genetic disorders.