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A rare case of a de novo dup(19q) associated with a mild phenotype
  1. M Qorri1,
  2. P Oei1,
  3. H Dockery1,
  4. J McGaughran2
  1. 1Department of Cytogenetics, Labplus, Auckland Hospital, Auckland, New Zealand
  2. 2Northern Regional Genetics Service, Auckland Hospital, Auckland, New Zealand
  1. Correspondence to:
 Dr M Qorri, Cytogenetics Laboratory, Labplus, PO Box 110031, Auckland Hospital, Auckland, New Zealand;
 methatq{at}adhb.govt.nz

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Partial trisomy of the long arm of chromosome 19q is an uncommon aneusomy and has been reported in only 18 cases. Fourteen of these were the result of unbalanced translocations. Only four cases were the result of pure duplications.1–4 The phenotype described includes microcephaly, heart malformations, anomalies of the genitourinary tract or gastrointestinal system, and growth retardation. Developmental delay is common (table 1) and the prognosis usually poor owing to the severity of the anomalies.

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Table 1

Clinical findings of live born partial trisomy 19q

We present a child with a dir dup(19)(q13.1q13.3) de novo direct duplication. The origin of the extra material was confirmed by fluorescence in situ hybridisation (FISH) using a whole chromosome paint probe for chromosome 19. The patient’s phenotype is less severe than previously reported and possibly reflects the different rearrangement breakpoints and concomitant extent of duplication.

CASE REPORT

The proband was a female, born at 39 weeks of gestation to non-consanguineous, Caucasian parents. She was delivered by caesarean section for maternal reasons. Birth weight was 3555 g (>50th centile), length 52 cm (90th centile), and OFC 33.3 cm (>10th centile). Her Apgar scores were 9 at one minute and 10 at five minutes. She was the couple’s first child. Clinical examination at birth was normal. She had some difficulty breast feeding but managed well with bottle feeding. At 6 months of age there were concerns about her development. She was referred for assessment at the age of 11 months. Although she had good head control, was able to sit supported, and take weight on her forearms, she could not weight bear and had no words. She had an immature grasp. She appeared …

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