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PO-0376 A Novel Case Of Unbalanced Translocation Of Chromosome 3 And 7
  1. S Rao1,
  2. E Hussien1,
  3. M Lees2,
  4. A Shastri1
  1. 1Paediatrics and Neonatology, Colchester Hospital University NHS Foundation Trust, Colchester, UK
  2. 2Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK


Background It is estimated that 1 in 500 to 1 in 625 human newborns have a balanced reciprocal chromosomal translocations. Such individuals are usually healthy and do not have any specific features. We report an unusual case of unbalanced translocation of chromosome 3 and 7 and describe its features.

Casereport A female baby born at 37 weeks gestation by a spontaneous vaginal delivery was admitted to our NICU with poor Apgar scores. Immediately after birth, she had a poor ventilatory effort requiring continuous positive airway pressure (CPAP) and further deterioration in her respiratory function led to intubation andsurfactant administration. Echocardiogram revealed small perimembranous VSD. She had dysmorphic features including micrognathia, broad occiput, low set ears, single palmar crease, and large cleft palate. Subsequent genetic tests confirmed unbalanced translocation of chromosome 3 and 7. She was gradually weaned off ventilator support at 2 weeks and was discharged from NICU. A week following discharge she presented with bronchiolitis and has continued need for High flow (Vapotherm) support. She feeds on high energy formula via a nasogastric tube due to poor weight gain and remains on treatment for moderate to severe reflux. She islikely to need gastrostomy and cleft surgery.

Conclusion Dysmorphic features as reported in this case report should raise suspicion of a chromosomal defect, which needs early genetic referral and microarray. Balanced translocations are common and usually do not have specific clinical features. However unbalanced translocations are uncommon but they may have significant clinical expressions.

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