Korean J Ophthalmol.  2012 Aug;26(4):316-318. 10.3341/kjo.2012.26.4.316.

Congenital Ocular Anomaly in an Infant with Trisomy 14 Mosaicism

• Choi JH
• Choi YJ
• Kim SY

• KMID: 1387403
• DOI: http://doi.org/10.3341/kjo.2012.26.4.316

Abstract

Trisomy 14 mosaicism is a rare chromosomal abnormality with distinct and recognizable clinical features. We report a patient with presumed retinal dystrophy having diffuse retinal pigment epithelial abnormalities, which has not been previously reported in association with trisomy 14. This case expands the clinical spectrum of this rare entity.

Keyword

Retinal dystrophies; Trisomy 14; Trisomy 14 mosaicism

MeSH Terms

Abnormalities, Multiple/genetics
Chromosomes, Human, Pair 14
Female
Humans
Infant, Newborn
Mosaicism
Retinal Diseases/*congenital/genetics
*Trisomy

Figure

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  Fig. 1 Photographs of the general appearance in mosaic trisomy 14 syndrome at 2 weeks of age. The patient had a prominent forehead, narrow palpebral fissure, and broad nose (A), right-sided fifth finger clinodactyly (B), and prominent long phalanges of the fourth digits on both feet (C). Informed consent was received from parents of the patient.

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  Fig. 2 Photographs of external ocular appearance in mosaic trisomy 14 syndrome at 2 weeks of age. The patient had a narrow palpebral fissure with hypertelorism and telecanthus.

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  Fig. 3 Photographs of fundus in mosaic trisomy 14 syndrome at 2 weeks of age. Retinal pigmentary dystrophy was revealed all around the retina in the right (A) and left (B) eyes.

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  Fig. 4 Result of chromosomal study in mosaic trisomy 14 syndrome at 2 weeks of age. The result was a normal karyotype (A) and with an extra chromosome 14 (B, arrow).

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