Rare Diseases Symptoms Automatic Extraction

De novo t(5p;21q) in a patient previously diagnosed as monosomy 21.

[monosomy 21]

In situ hybridization was used to characterize an undetected chromosome translocation in a child whose metaphase chromosome analysis in peripheral blood and in skin culture revealed apparent monosomy 21. The cytogenetic study revealed 45 chromosomes, and no other structural anomalies were detected with G banding. In situ hybridization of chromosome 21-specific probes to metaphase chromosomes and reverse banding from the proband showed a de novo translocation between chromosome 5 and chromosome 21.

Diseases presenting "peripheral blood" symptom

  • adrenomyeloneuropathy
  • allergic bronchopulmonary aspergillosis
  • aniridia
  • cohen syndrome
  • congenital toxoplasmosis
  • cutaneous mastocytosis
  • erdheim-chester disease
  • esophageal adenocarcinoma
  • esophageal squamous cell carcinoma
  • familial mediterranean fever
  • gm1 gangliosidosis
  • junctional epidermolysis bullosa
  • lamellar ichthyosis
  • monosomy 21
  • oligodontia
  • omenn syndrome
  • scrub typhus
  • severe combined immunodeficiency
  • typhoid
  • von hippel-lindau disease
  • waldenström macroglobulinemia
  • wiskott-aldrich syndrome
  • wolf-hirschhorn syndrome
  • x-linked adrenoleukodystrophy

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