Linked Life Data

14974122

Source:http://linkedlifedata.com/resource/pubmed/id/14974122

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2004-2-19
pubmed:databankReference
pubmed:abstractText
To present the prenatal diagnosis of de novo distal 11q deletions and a review of the literature. CLINICAL SUBJECTS AND METHODS: A 31-year-old primigravid woman underwent amniocentesis at 20 weeks' gestation because of a maternal serum alpha-fetoprotein (MSAFP) level of 2.63 multiples of the median. Amniocentesis demonstrated a karyotype of 46,XY,del(11)(q24.2). The parental karyotypes were normal. Level II ultrasound revealed short femurs and humeri, and overlapping of the toes. Postnatally, the proband manifested additional findings of the characteristic facial dysmorphism and camptodactyly. A 38-year-old gravida 2, para 1, woman underwent amniocentesis at 18 weeks' gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XX,del(11)(q24.1). The parental karyotypes were normal. Level II ultrasound did not show fetal structural abnormalities. Postnatally, the proband manifested characteristic facial dysmorphism and camptodactyly.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0197-3851
pubmed:author
pubmed:copyrightInfo
Copyright 2004 John Wiley & Sons, Ltd.
pubmed:issnType
Print
pubmed:volume
24
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
130-6
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
Prenatal diagnosis of the distal 11q deletion and review of the literature.
pubmed:affiliation
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China. cpc_mmh@yahoo.com
pubmed:publicationType
Journal Article, Review, Case Reports, Research Support, Non-U.S. Gov't