{
  "abstract": "A term neonate with a history of intrauterine growth restriction and suspected unbalanced chromosome 5;12 findings on prenatal testing was born via emergent caesarean section associated with placental abruption and Apgar scores of 4/5/7 at 1, 5 and 10 min. The general examination revealed no dysmorphic features. The neurological examination showed mild distal flexion, weak primitive reflexes and generalised hypotonia. Initial fetal blood gas (pH of 7.17, partial pressure of carbon dioxide 22, base excess of −21) and examination findings were concerning for hypoxic ischaemic encephalopathy. Prompt hypothermic therapy was initiated without evidence of electrographic seizures. General laboratories revealed evidence of renal failure that required peritoneal dialysis. An echocardiogram showed a patent foramen ovale with normal ejection fraction. On further family history, the patient’s mother and maternal grandmother are known carriers of balanced chromosome 5;12 rearrangement. The maternal uncle in his 40s has the 5;12 rearrangement and was diagnosed with Cri-du-Chat syndrome in early childhood. MRI post-hypothermic cooling on day of life 4 revealed hypoplasia of the pons and cerebellar vermis ( figure 1A and B). T1-weighted MRI demonstrated absent myelination of the posterior limbs of the internal capsule along with posterior parietal hyperintensities (figure 1C), confirmed on susceptibility-weighted imaging to be consistent with blood products (figure 1D). Microarray analysis post-delivery confirmed an unbalanced chromosome 5;12 rearrangement consistent with both Cri-du-Chat syndrome and chromosome 12q24.31-q24.33 duplication. At 1-year follow-up, the patient has profound global developmental delays in all domains and end-stage renal disease awaiting renal transplant.",
  "authors": [
    {
      "affiliations": [
        "Neurosciences, Children’s Hospital of Orange County, Orange, California, USA"
      ],
      "name": "Aarij Gora"
    },
    {
      "affiliations": [
        "Pediatrics, University of California Irvine, Irvine, California, USA",
        "Pediatrics, Children’s Hospital Orange County, Orange, California, USA"
      ],
      "name": "John Ross Crawford"
    }
  ],
  "title": "Neuroimaging features of 12q24.31-q24.33 duplication and Cri-du-Chat syndrome in an infant",
  "uid": "2599d959-7888-5fbb-ad79-aa6eb5eced5e"
}