Recognizing the clinical features of Trisomy 13 syndrome

Angel Rios, Susan A. Furdon, Darius Adams, David A. Clark

Research output: Contribution to journalReview article

17 Citations (Scopus)

Abstract

Recognition of the clinical features of Trisomy 13 syndrome, a common autosomal trisomy, provides the basis for diagnostic testing and counseling of families. This article provides a systematic guide to physical assessment and photographs to enhance recognition of this genetic disorder. The principles of numerical chromosomal abnormalities as related to trisomies are reviewed. An abnormal development of the forebrain, holoprosencephaly, is the most common cranial abnormality in infants with Trisomy 13. The embryology and implications of holoprosencephaly are described. A discussion of antenatal diagnosis of Trisomy 13 and delivery room management is also provided. The diagnosis of Trisomy 13 is confirmed antenatally or after delivery with genetic testing. Prognosis of infants with Trisomy 13 and implications for the infant's development are described.

Original languageEnglish (US)
Pages (from-to)332-343
Number of pages12
JournalAdvances in Neonatal Care
Volume4
Issue number6
DOIs
StatePublished - Dec 1 2004
Externally publishedYes

Fingerprint

Holoprosencephaly
Trisomy
Delivery Rooms
Inborn Genetic Diseases
Embryology
Genetic Testing
Prosencephalon
Child Development
Prenatal Diagnosis
Chromosome Aberrations
Counseling
Trisomy 13 syndrome

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

Cite this

Rios, Angel ; Furdon, Susan A. ; Adams, Darius ; Clark, David A. / Recognizing the clinical features of Trisomy 13 syndrome. In: Advances in Neonatal Care. 2004 ; Vol. 4, No. 6. pp. 332-343.
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Recognizing the clinical features of Trisomy 13 syndrome. / Rios, Angel; Furdon, Susan A.; Adams, Darius; Clark, David A.

In: Advances in Neonatal Care, Vol. 4, No. 6, 01.12.2004, p. 332-343.

Research output: Contribution to journalReview article

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