Rare Diseases Symptoms Automatic Extraction

Another patient with 12q13 microduplication.

[wolf-hirschhorn syndrome]

Interstitial duplication of the long arm of chromosome 12 is a rare cytogenetic condition. While several reports describe distal 12q duplication, only one case report of homogeneous, non-mosaic interstitial 12q13 duplication has been documented to date. The authors of that observation proposed that the associated phenotype represented a phenocopy of Wolf-Hirschhorn syndrome [Dallapiccola et al., 2009]. Only a few other recorded patients with deletion 12q13 → 12q21 involved mosaicism. We describe a new patient with homogeneous 12q13 duplication in a 6-year-old girl who, in early infancy, presented with dysmorphic features suggesting Wolf-Hirschhorn syndrome. What is potentially significant about this patient is that her facial phenotype evolved with age, suggesting a different gestalt in older patients.

Diseases presenting "early infancy" symptom

  • aromatase deficiency
  • canavan disease
  • congenital adrenal hyperplasia
  • cutaneous mastocytosis
  • cystinuria
  • epidermolysis bullosa simplex
  • erythropoietic protoporphyria
  • kallmann syndrome
  • malignant atrophic papulosis
  • megacystis-microcolon-intestinal hypoperistalsis syndrome
  • omenn syndrome
  • papillon-lefèvre syndrome
  • pyruvate dehydrogenase deficiency
  • wolf-hirschhorn syndrome

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