Clinical Genetics · 1977 · 14 citations · 6 references
Life SciencesGeneticsMolecular GeneticsCytogeneticsHuman GeneticsMedical GeneticsChromosomal AbnormalitiesChromosomal DisordersGenetic DisordersMeiotic RecombinationNumerical Chromosome AbnormalitiesStructural Chromosome AbnormalitiesChromosomal DeletionsChromosome DeletionsGene Deletion SyndromesMeiotic AbnormalitiesMeiotic Chromosome SegregationMicrodeletion SyndromesParental Chromosomal AbnormalitiesSex Chromosome Deletions
Deletion of the short arm of chromosome 9, derived from a 3:1 meiotic segregation in the mother, carrier of a balanced 9/15 translocation, was found in a 3-year-old female. Severe psychomotor retardation with delayed speech, brachicephaly, flat occiput hypertelorism and long upper lip were the main signs in the girl.
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Deletion of the short arm of chromosome no.9 (46,9p-): a new deletion syndrome.
O.S. Alfi, George N. Donnell, Barbara F. Crandall et al. · PubMed · 1973 · 141 citations
The Prader-Willi syndrome with a 15/3 translocation.
M Kucerová, M Straková, Z Polívková · Journal of Medical Genetics · 1979 · 46 citations · Full text
O.S. Alfi, George N. Donnell, P. W. Allderdice et al. · PubMed · 1976 · 45 citations
15/15 translocation in Prader-Willi syndrome.
M. Fraccaro, Orsetta Zuffardi, E. Bühler et al. · Journal of Medical Genetics · 1977 · 44 citations · Full text
C-Group Chromosome Abnormality (? 10p-)
Dorothy Elliott · American journal of diseases of children · 1970 · 34 citations
Life Sciences, Genetics, Pediatrics +17