Linked Life Data

495587

Source:http://linkedlifedata.com/resource/pubmed/id/495587

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
10
pubmed:dateCreated
1979-12-20
pubmed:abstractText
A father, son, and daughter had a (3;15) (p27;q22) simple reciprocal translocation. No abnormality in the G-banding pattern was noted. The girl was most severely affected; she had an abnormal phenotype, noticeable delay in receptive and expressive language development, bilateral hearing impairment, and definite mental retardation. The boy had a moderate delay in receptive language skills, had moderate hearing impairment in one ear, and showed mild mental retardation. The father has low-set ears, some deficits in receptive language skills, is illiterate, and was found to be borderline mentally retarded. The mother and younger child do not have the translocation and are normal in terms of phenotype, intellect, and verbal skills. The accumulating evidence suggests that balanced translocations are associated with an increased frequency of intellectual deficit and congenital anomalies, and the cytogenetic mechanism may be that of position effect.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0002-922X
pubmed:author
pubmed:issnType
Print
pubmed:volume
133
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1002-5
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
1979
pubmed:articleTitle
Family with three apparently balanced t(3;15) (p27;q22) translocation carriers. Association with deficits in language acquisition and mental retardation: a possible example of position effect in man.
pubmed:publicationType
Journal Article