Linked Life Data

3969990

Source:http://linkedlifedata.com/resource/pubmed/id/3969990

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1985-2-25
pubmed:abstractText
A young woman with features resembling de Lange syndrome had a normal banded karyotype. Similar phenotypes were present in a maternal aunt and uncle. Utilizing high-resolution banding, the propositus was found to have a chromosomal abnormality characterized by dup(4p)del(9p). Using the same banding technique, her mother and two of her siblings were identified as having balanced reciprocal translocations. Chromosome studies with high-resolution banding should be performed in these instances even in the presence of a normal banded karyotype. Determining a chromosomal basis for the phenotype may lead to a significant reproductive risk in individuals with balanced chromosomal rearrangements and may afford them with the opportunity to pursue prenatal diagnosis.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0002-922X
pubmed:author
pubmed:issnType
Print
pubmed:volume
139
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
81-4
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
1985
pubmed:articleTitle
Dup(4p)del(9p) in a familial mental retardation syndrome. Resemblance to de Lange syndrome detected by high-resolution banding.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Case Reports, Research Support, Non-U.S. Gov't