Trisomy Disorders

Trisomy 14

Posted on: October 30, 2008

Syndrome chromosome 14 


Chromosomes, Human, Pair 14 Growth Disorders Psychomotor Disorders Trisomy


Presence of an additional (third) chromosome in an otherwise diploid chromosome 14, associated with variable clinical manifestations consisting of growth and psychomotor delay, failure to thrive, minor facial abnormalities, cleft palate, congenital heart defect, body asymmetry, genital anomalies, and skin pigmentation.

Major Features

Head and neck: Microcephaly, prominent forehead, micrognathia, and facial asymmetry.

Ears: Low-set dysplastic ears.

Eyes: Hypertelorism, deeply-set small eyes, translucent film over the eyes, and downslanting palpebral fissures,

 Nose: Wide nasal bridge and long philtrum.

Mouth and oral structures: Wide mouth with thick lips and cleft or highly arched palate.

Neck: Short and wide neck.

Hand and foot: Hand flexion contractures.

Extremities: Asymmetry and hip dislocation.

Skin: Hyperpigmentation. Incontinentia pigmenti.

Cardiovascular system: Tetralogy of Fallot and atrial septal defect.

Urogenital system: Cryptorchidism, small penis, and renal insufficiency.

Growth and development: Growth, motor, and mental retardation.

Behavior and performance: Failure to thrive.

Heredity: Trisomy 14 has been reported mainly in abortuses, but rarely in liveborn infants; most living examples represent trisomy 14 mosaicism.

Additional features: Occasional asymmetric development.

Historical References

Murken JD et al Trisomie D2 bei einem 2 1/2 jährigen Mädchen (47,XX,14+). Humangenetik, 1970, 10:254-68

 Snodgras GJAI et al The “D”(13-15) trisomy syndrome. An analysis of 7 examples. Arch Dis Child, 1966, 41:250-61


Dallapiccola B et al A live infant with trisomy 14 mosaicism and nuclear abnormalities of the neutrophils. J Med Genet (London), 1984, 21:467-70 [MEDLINE]

Fujimoto A et al Trisomy 14 mosaicism with t(14;15)(q11p11) in an offspring of a balanced translocation carrier mother. Am J Med Genet, 1985, 22:333-42 [MEDLINE]

Jenkins MV et al Trisomy 14 mosaicism in a translocation 14q15q carrier: Probable dissociation and isochromosome formation. J Med Genet (London), 1981, 18:68-71 [MEDLINE]

 Johnson VP et al Trisomy 14 mosaicism: Case report and review. Am J Med Genet, 1979, 3:331-9 [MEDLINE]

Kaplan l et al Trisomy 14 mosaicism in a liveborn male: Clinical report and review of the literature. Am J Med Genet, 1986, 23:925-30 [MEDLINE]

Martin AO et al 46,XY/47,XX,+14 mosaicism in a liveborn infant. J Med Genet (London), 1977, 14:214-8 [MEDLINE]

Rethoré MO et al Trisomie 14 et mosaïque chez une enfant multimalformée. Ann Génét (Paris), 1975, 18:71-4

Turleau C et al Trisomie 14 en mosaïque par isochromosome discentrique. Ann Génét (Paris), 1980, 23:238-40

National Institutes of Health


Trisomy 14 Mosaicism

Trisomy 14 Mosaicism

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