Rare Diseases Symptoms Automatic Extraction

Prenatal diagnosis and molecular cytogenetic characterization of a de novo proximal interstitial deletion of chromosome 4p (4p15.2→p14).

[wolf-hirschhorn syndrome]

We present prenatal diagnosis of de novo proximal interstitial deletion of chromosome 4p (4p15.2p14) and molecular cytogenetic characterization of the deletion using uncultured amniocytes. We review the phenotypic abnormalities of previously reported patients with similar proximal interstitial 4p deletions, and we discuss the functions of the genes of RBPJ, CCKAR, STIM2, PCDH7 and ARAP2 that are deleted within this region.

Diseases presenting "previously reported patients" symptom

  • dentin dysplasia
  • familial mediterranean fever
  • krabbe disease
  • monosomy 21
  • neonatal adrenoleukodystrophy
  • triple a syndrome
  • von hippel-lindau disease
  • wolf-hirschhorn syndrome
  • zellweger syndrome

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