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Keywords

balanced translocation, bilateral cleft, bilateral cleft palate, chromosomes, congenital cutis aplasia, Dandy-Walker, genetics, malformation, multiple translocations, neonatal nurse practitioner

 

Authors

  1. Linder, Carie E. RNC-NIC
  2. Lu, Xianglan MD
  3. Kim, Young Mi PhD
  4. Li, Shibo MD
  5. Pineda, Jose MD

Abstract

This article presents a case review of a newborn diagnosed with a complex chromosomal rearrangement, as demonstrated through a painted chromosomal analysis. This infant presented with multiple dysmorphology including cutis aplasia, multiple ocular malformations, bilateral cleft lip and palate, and postnatal hydrocephaly. A chromosomal analysis revealed multiple-ways, balanced translocation involving chromosomes 3, 4, 6, 8, and 9. This case study provides a unique opportunity to, in retrospect, trace each malformation exploring the pathophysiology, etiology, and correlating origin with chromosomal variation. Careful review of this case, enhanced by the visually augmented representation of each translocation, will increase understanding of chromosomal anomalies and their implications in embryological development and clinical presentation.