Trisomy Disorders

Trisomy 15

Posted on: October 30, 2008

Syndrome

chromosome 15 trisomy

Synonyms

15 trisomy trisomy 15 trisomy 15 syndrome

MeSH

Chromosomes, Human, Pair 15 Trisomy

Summary

Usually a lethal form of chromosomal aberrations. Most surviving infants have mosaic trisomy 15 and exhibit multiple congenital anomalies involving the craniofacial, limb, cardiovascular, and other structures.

Major Features

Head and neck: Micro/retrognathia.

Ears: Dysmorphic ears.

Nose: Large nose with broad bridge and upturned nares.

Mouth and oral structures: Small mouth, highly arched palate, cleft palate, and narrow lips. Neck: Short and webbed neck.

Thorax: Widely spaced nipples, short sternum, and abnormal number of ribs.

Hand and foot: Overriding fingers and toes, clenched hands, and talipes equinovarus

Cardiovascular system: Heart defects.

Gastrointestinal system: Anteriorly placed anus.

Growth and development: Growth and mental retardation.

Historical References

Coldwell S et al A case of trisomy of chromosome 15. J Med Genet (London), 1981, 18:146-8

Ginelli G et al Prenatal diagnosis, fetal pathology and cytogenetic analysis of46,XX/47.XX,+15. Prenat Diag, 1983, 3:75-9

Bibliography

Bennett CP et al Trisomy 15 mosaicism in an IVF fetus. J Med Genet (London), 1992, 29:745-6 [MEDLINE]

Büchler EM et al Delineation of a clinical syndrome caused by mosaic trisomy 15. Am J Med Genet, 1996, 62:109-12 [MEDLINE]

Fryns JP et al A specific phenotype associated with trisomy 15 mosaicism. Ann Génét (Paris), 1993, 36:129-31

Kuller JA, Laffer SA Trisomy 15 associated with nonimmune hydrops. Am J Perinat, 1991, 8:39-40

Lähdetie H, Lakkala T Mosaic trisomy 15 found at amniocentesis. Prenat Diag, 1992, 12:551-2

Stallard R, Sommer A Trisomy 15 in a mosaic, doubly aneuploid two year old. Am J Hum Genet, 1989, 45(Suppl):A92

Sundberg K et al True monosomy 15 mosaicism, detected by amniocentesis at 12 week of gestation and fetal echocardiography. Prenat Diag, 1994, 14:559-63

National Institutes of Health

See Also:

Annotated UPD Reference List for Maternal Chromosome 15

Trisomy 15 mosiacism

Trisomy 15 (as sole autosomal abnormality)

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