Literature DB >> 10818854

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

A L Matthews1.   

Abstract

The birth of an infant with a chromosomal abnormality such as trisomy 18, 13, Wolf-Hirschhorn (4p-) syndrome, Cri-du-chat (5p-) syndrome, and the microdeletion syndromes creates a stressful and devastating experience for families. Many of these disorders have severe consequences encompassing major malformations and mental retardation. With increasing diagnostic accuracy, clinicians can now appreciate the wide variability and natural history of these disorders. Although many of these infants do not survive the neonatal period, others do. Neonatal nurses have the opportunity to assist families in these situations by providing anticipatory guidance and care.

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Year:  1999        PMID: 10818854     DOI: 10.1097/00005237-199909000-00006

Source DB:  PubMed          Journal:  J Perinat Neonatal Nurs        ISSN: 0893-2190            Impact factor:   1.638


  3 in total

1.  A Checkpoint-Related Function of the MCM Replicative Helicase Is Required to Avert Accumulation of RNA:DNA Hybrids during S-phase and Ensuing DSBs during G2/M.

Authors:  Sriram Vijayraghavan; Feng-Ling Tsai; Anthony Schwacha
Journal:  PLoS Genet       Date:  2016-08-24       Impact factor: 5.917

Review 2.  The trisomy 18 syndrome.

Authors:  Anna Cereda; John C Carey
Journal:  Orphanet J Rare Dis       Date:  2012-10-23       Impact factor: 4.123

3.  [Anesthesia in a child operated for cleft lip associated with Patau's syndrome].

Authors:  Manoj Kamal; Don Varghese; Jeet Bhagde; Geeta Singariya; Annie Miju Simon; Amar Singh
Journal:  Braz J Anesthesiol       Date:  2017-05-16
  3 in total

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