Annals of Laboratory Medicine

Korean Society for Laboratory Medicine (대한진단검사의학회)
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Two Cases of Partial Trisomy 4p and Partial Trisomy 14q

  • Kim, Yeo-Hyang (Department of Pediatrics, Keimyung University School of Medicine) ;
  • Kim, Heung-Sik (Department of Pediatrics, Keimyung University School of Medicine) ;
  • Ryoo, Nam-Hee (Department of Laboratory Medicine, Keimyung University School of Medicine) ;
  • Ha, Jung-Sook (Department of Laboratory Medicine, Keimyung University School of Medicine)
  • Published : 2013.01.02
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Abstract

We present clinical and cytogenetic data on 2 cases of partial trisomy 4p and partial trisomy 14q. Both patients had an extra der(14)t(4;14)(p15.31;q12) chromosome due to a 3:1 segregation from a balanced translocation carrier mother. Array analyses indicated that their chromosomal breakpoints were similar, but there was no relationship between the 2 families. Both patients showed prominent growth retardation and psychomotor developmental delay. Other phenotypic manifestations were generally mild and variable; for example, patient 1 had a short palpebral fissure and low-set ears whereas patient 2 had a round face, asymmetric eyes, small ears, a short neck, finger/toe abnormalities, and behavioral problems.

Keywords

References

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