Linked Life Data

18841024

Source:http://linkedlifedata.com/resource/pubmed/id/18841024

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2009-1-30
pubmed:abstractText
We report a case of prenatally diagnosed chromosome 7q intermediate interstitial deletion with the aid of first-trimester Down's syndrome (DS) screening. After detection of a significantly diminished maternal serum pregnancy-associated plasma protein A and correspondingly high DS risk, the pregnant woman underwent amniocentesis for fetal chromosomal analysis. Amniocytes revealed a 46,XY,del(7) (q21.2q31.1) karyotype and 21 weeks' sonography revealed fetal growth restriction, elevated nuchal fold thickness and cardiomegaly. After therapeutic induction at 22 weeks of gestation, a 310-gram male fetus was born with multiple gross abnormalities including hypertelorism, wide nasal bridge, low-set ears, cleft palate, prominent cheeks, prominent nuchal skin, simian crease and postaxial polydactyly. We review the associated prenatal screening findings, the sonographic profile and phenotypical features associated with chromosome 7q intermediate interstitial deletion.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
1421-9964
pubmed:author
pubmed:copyrightInfo
Copyright 2008 S. Karger AG, Basel.
pubmed:issnType
Electronic
pubmed:volume
24
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
340-4
pubmed:dateRevised
2010-8-18
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Intermediate interstitial deletion of chromosome 7q detected by first-trimester Down's syndrome screening.
pubmed:affiliation
Fetal Treatment Center, University of California, San Francisco, CA 94143-0570, USA.
pubmed:publicationType
Journal Article, Case Reports