Clinical Genetics · 1980 · 64 citations · 13 references
Life SciencesGeneticsMolecular GeneticsCytogeneticsHuman GeneticsMedical GeneticsAneuploidyChromosomal AbnormalitiesChromosomal DisordersCopy Number VariantsGenetic DisordersGenetic LinkageInherited Chromosomal DisordersTetrasomic Inheritance
A de nova bistaellited derivative of chromosome 15, inv dup (15) (pter leads to q11 or 12::p11 or q11 or 12 leads to pter), was identified by multiple banding techniques in a patient with Prader-Willi syndrome. A comparison of familial no. 15 short arm polymorphisms indicated that the extra chromosome was the result of a non-sister chromatid exchange between the paternal no. 15 homologs prior to or during meiosis.
13
Systematic analysis of 95 reciprocal translocations of autosomes
Alain Aurias, M Prieur, Bernard Dutrillaux et al. · Human Genetics · 1978 · 143 citations
Cytogenetic and clinical studies in five cases of inv dup(15)
L. Wiśniewski, Terry Hassold, James R. Heffelfinger et al. · Human Genetics · 1979 · 112 citations
BENIGN CONGENITAL HYPOTONIA WITH CHROMOSOMAL ANOMALY
Henry G. Dunn, Denys K. Ford, Nelly Auersperg et al. · PEDIATRICS · 1961 · 82 citations
Life Sciences, Genetics, Pediatrics +11