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Mosaic terminal del(19)(q13.33:) in a girl with seizures and mental retardation
  2. KADI VARB*,
  1. *Department of Human Biology and Genetics, Institute of General and Molecular Pathology, University of Tartu, Ravila Street 19, Tartu 50411, Estonia
  2. †Homeschool of Karula, Estonia
  3. ‡Institute for Medical Genetics, University of Zürich, Switzerland
  1. Dr Mikelsaar, mikels{at}

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Editor—Constitutional deletions of chromosome 19 are very rare.1 At present, only one case of 19p deletion2 and six cases of a de novo proximal deletion of 19q have been reported. The 19q deletions include an interstitial deletion del(19)(q12q13.1) and a submicroscopic de novo deletion of 19q13 resulting from t(X;19)(p21;q13) in a patient with Diamond-Blackfan anaemia and congenital anomalies.3 ,4 The analysis of familial and sporadic cases of Diamond-Blackfan anaemia showed four additional patients with de novo microdeletions that overlap the 19q13.2 region.5-7 No cases with a deletion of the terminal segment of 19q have been described so far. We report the first case of a constitutional terminal mosaic deletion of 19q with a breakpoint at band 19q13.33.

The proband, a girl, was the result of the first pregnancy of healthy, unrelated, Estonian parents. At the child's birth, the mother was 20 and father 24 years old. The pregnancy was uneventful and the child was born at 42 weeks. Birth weight was 3920 g, length 51 cm, and head circumference (OFC) 35 cm. She was asphyxiated at birth (Apgar score was 2 at five minutes) and required artificial ventilation for two hours. On the third day she …

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