Trisomy 14 Mosaicism: A Case without Evidence of Neurodevelopmental Delay and a Review of the Literature

ABSTRACT

Trisomy 14 mosaicism is a rare chromosomal defect with only 20 cases reported in the literature. We describe a child with trisomy 14 mosaicism who has some previously described and some novel phenotypic features. Trisomy 14 mosaicism was demonstrated in both blood lymphocytes and from skin fibroblasts, and with normal parents and siblings. This child had no evidence of neurodevelopmental delay at 6 years of age on formal testing, suggesting that mental retardation is not universal in this condition. This child did not demonstrate neurodevelopmental delay, which as been reported universally among children with trisomy 14 mosaicism.

KEYWORDS

Trisomy 14 - mosaicism

REFERENCES

• 1 Lynch M F, Fernandes C J, Shaffer L G, Potocki L. Trisomy 14 mosaicism: a case report and review of the literature.  J Perinatol. 2004;  24 121-123
• 2 Frankenburg W K, Dodds J B. Denver Developmental Screening Test II. Denver Developmental Materials, Denver, CO 1990
• 3 Bricker D. Ages and Stages Developmental Surveys. 2nd ed. Baltimore, MD; Paul H. Brooks 1995
• 4 Peabody Developmental Motor Scales. 2nd ed. Austin, TX; Pro-Ed 2000
• 5 Witters I, Moerman P, Fryns J P. First trimester scan in trisomy 14 mosaicism.  Prenat Diagn. 2004;  24 573-574
• 6 Fujimoto A, Allanson J, Crowe C A, Lipson M H, Johnson V P. Natural history mosaic trisomy 14 syndrome.  Am J Med Genet. 1992;  44 189-196
• 7 Johnson V P, Aceto T, Likness C. Trisomy 14 mosaicism: case report and review.  Am J Med Genet. 1979;  3 331-339
• 8 Tunca Y, Wilroy R S, Kadandale J S, Martens P R, Gunther W M, Tharapel A T. Hypomelanosis of Ito and a ‘mirror image' with chromosome duplication resulting in trisomy 14 mosaicism.  Ann Genet. 2000;  43 39-43
• 9 Iglesias A, McCurdy L D, Glass I A et al.. Mosaic trisomy 14 with hepatic involvement.  Ann Genet. 1997;  40 104-108