Linked Life Data

7449187

Source:http://linkedlifedata.com/resource/pubmed/id/7449187

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1981-3-17
pubmed:abstractText
This paper describes the unexpected transmission of a translocation (22;22)(p13;q11) from a mother to her phenotypically normal daughter (the proband). Both women had had multiple abortions. No signs of mosaicism with respect to chromosome No. 22 were found in the proband or in her mother. Until now, it has been generally assumed that carriers of a 22/22 translocation will have only abnormal conceptuses. The transmission of this translocation from a balanced carrier to a phenotypically normal daughter was therefore highly unexpected and is not easy to explain. Early postzygotic loss of a chromosome no. 22 from a trisomic zygote, or fertilization of an oocyte carrying the translocation by a sperm nullisomic for chromosome no. 22 could have led to the balanced chromosome pattern of the proband.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0009-9163
pubmed:author
pubmed:issnType
Print
pubmed:volume
18
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
456-61
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1980
pubmed:articleTitle
Habitual abortion and translocation (22q;22q): unexpected transmission from a mother to her phenotypically normal daughter.
pubmed:publicationType
Journal Article