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Interstitial deletion of 3p22.2-p24.2: the first reported case
  1. H X Liua,
  2. P T S P Oeia,
  3. E A Mitchellb,
  4. J M McGaughranc
  1. aDepartment of Cytogenetics, Starship Children's Hospital, Auckland, New Zealand, bDepartment of Paediatrics, University of Auckland, Auckland, New Zealand, cNorthern Regional Genetic Service, Building 18, Auckland Hospital, Grafton, Auckland, New Zealand
  1. Dr McGaughran, juliemc{at}ahsl.co.nz

https://doi.org/10.1136/jmg.38.5.349

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    Autosomal deletions or chromosomal haploinsufficiency syndromes are observed in 1 in 7000 live born infants1 and may cause multiple malformations, growth failure, and mental retardation. Deletions on the short arm of chromosome 3 have been reported in 35 cases and have been divided into two groups: deletion 3p syndrome2 with breakpoints between 3p24 and 3p25 and proximal deletion 3p syndrome3 with different breakpoints between 3p11 and 3p21.2. The first reported case of an interstitial deletion of chromosome 3p22.2-p24.2 in a 6 year old male with developmental delay is presented here.

    Case report

    The proband was the fourth child born, in England, to healthy, unrelated, white parents. There was no family history of note. He was born vaginally following spontaneous onset of labour at 41 weeks of gestation after an uneventful pregnancy and weighed 3140 g (10th centile). A murmur was noted shortly after delivery and echocardiography confirmed the presence of a small, perimembranous ventricular septal defect. His early milestones were reported as normal, but he was referred for assessment of developmental delay when aged 16 months. He made good progress following input from a child development unit. He walked at 23 months and had speech delay. He was reassessed three months after arrival …

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