Publication | Open Access
13q- syndrome. Family study.
12
Citations
8
References
1977
Year
Family MedicineCytogeneticsGeneticsEpigeneticsFamily HealthMendelian Disorder13Q- SyndromeChromosome Number 13Clinical EpidemiologyBalanced TranslocationPublic HealthChromosome 22Down SyndromeChromosomal RearrangementNumber 13ChromatinDevelopmental BiologyGenetic DisorderChromosome BiologyMedicineChromosome 9
A patient is described who had a deletion involving the long arm of chromosome number 13. The mother and 4 of 7 living sibs showed a balanced translocation from the long arm of a number 13 chromosome to the long arm of a number 3 chromosome. We stress the importance of investigating the families of children with chromosomal defects.
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