Case Reports
doi: 10.1136/jmg.14.2.124.
Partial trisomy 14q -- and parental translocation of No. 14 chromosome. Report of a case and review of the literature
- PMID: 853318
- PMCID: PMC1013527
- DOI: 10.1136/jmg.14.2.124
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Case Reports
Partial trisomy 14q -- and parental translocation of No. 14 chromosome. Report of a case and review of the literature
J Med Genet.
1977 Apr.
Abstract
A case of partial trisomy 14 (47, + 14q-) is presented. The proband's mother had a balanced translocation of 14q with the long arm of a No. 3 chromosome. Clinical and cytogenetic findings of this case are compared with 5 other cases of 47, + 14q-, in which one parent had a balanced translocation of the distal part of the No. 14 long arm to another chromosome. It appears that this chromosomal aneuploidy produces a fairly typical clinical picture.
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