Chromosome Deletion 1q43q44: A Case Review

Abstract

Numerous chromosome abnormalities are seen in NICUs around the world. With increased access to health care, in some cases, parents and practitioners are aware of an abnormality prior to birth, and a plan of care can be made. However, in many situations there is no prenatal diagnosis and these discoveries and diagnoses are made during the neonate's NICU stay. Providers in the NICU setting need to have a vast understanding of chromosome abnormalities, as they may be the first to guide parents through the maze of decisions that will follow. This case study analyzes a very rare deletion on chromosome 1q43q44. The 1q43q44 deletion is located at the subtelomeric region, the region farthest from the centromere, on the long arm of chromosome 1. This case study describes Baby D, who presented with multiple anomalies and was subsequently diagnosed with 1q43q44 deletion.

Keywords: 1q4 deletion; chromosomal; chromosomal anomalies; genetics; microdeletion.