Chromosomal abnormalities: Trisomy 18, trisomy 13, deletions, and microdeletions

Authors
Citation
Al. Matthews, Chromosomal abnormalities: Trisomy 18, trisomy 13, deletions, and microdeletions, J PERINAT N, 13(2), 1999, pp. 59-75
Citations number
49
Categorie Soggetti
Public Health & Health Care Science
Journal title
JOURNAL OF PERINATAL & NEONATAL NURSING
ISSN journal
08932190 → ACNP
Volume
13
Issue
2
Year of publication
1999
Pages
59 - 75
Database
ISI
SICI code
0893-2190(199909)13:2<59:CAT1T1>2.0.ZU;2-U
Abstract
The birth of an infant with a chromosomal abnormality such as trisomy 18, 1 3, Wolf-Hirschhorn (4p-) syndrome, Cri-du-chat (5p-) syndrome, and the micr odeletion syndromes creates a stressful and devastating experience for fami lies. Many of these disorders have severe consequences encompassing major m alformations and mental retardation. With increasing diagnostic accuracy, c linicians can now appreciate the wide variability and natural history of th ese disorders. Although many of these infants do not survive the neonatal p eriod, others do. Neonatal nurses have the opportunity to assist families i n these situations by providing anticipatory guidance and care.