Rare Diseases Symptoms Automatic Extraction

[A case of mosaic ring chromosome 4 with subtelomeric 4p deletion].

[wolf-hirschhorn syndrome]

Ring chromosome is a structural abnormality that is thought to be the result of fusion and breakage in the short and long arms of chromosome. Wolf-Hirschhorn syndrome (WHS) is a well-known congenital anomaly in the ring chromosome 4 with a partial deletion of the distal short arm. Here we report a 10-month-old male of mosaic ring chromosome 4 with the chief complaint of severe short stature. He showed the height of -4 standard deviation, subtle hypothyroidism and mild atrial septal defect/ventricular septal defect, and also a mild language developmental delay was suspected. Brain magnetic resonance imaging showed multifocal leukomalacia. Chromosomal analysis of the peripheral blood showed the mosaic karyotype with [46,XY,r(4)(p16q35)[84]/45,XY,-4[9]/91,XXYY, dic r(4;4)(p16q35;p16q35)[5]/46,XY,dic r(4;4)(p16q35;p16q35)[2]]. FISH study showed the deletion of the 4p subtelomeric region with the intact 4q subtelomeric and WHS region. Both paternal and maternal karyotypes were normal. We compared the phenotypic variation with the previously reported cases of ring chromosome 4. The ring chromosome 4 with the subtelomeric deletion of short arm seems to be related with the phenotype of short stature.

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

You can validate or delete this automatically detected symptom