Journal article
A rare case of a liveborn with free, de novo and partial trisomy 12 and an unusual phenotype
Annales de génétique, Vol.40(3), pp.175-180
1997
PMID: 9401108
Abstract
Individuals with free and total trisomy 12 are rare and always mosaic. Incidences of partial trisomy 12 are more frequent and are classified into trisomy 12p and trisomy 12q. The phenotype of both trisomy 12p and trisomy 12q is well described in the literature. We report here, the rare occurrence of a liveborn with free and de novo trisomy 12, albeit not the whole chromosome. The clinical description of this infant includes characteristics of trisomy 12p and trisomy 12q syndromes. Few additional anomalies present in the infant are unaccounted for by both syndromes. We anticipate that these characteristics are caused by trisomy 12q13, which to our knowledge has not been reported in a trisomy before.
Details
- Title: Subtitle
- A rare case of a liveborn with free, de novo and partial trisomy 12 and an unusual phenotype
- Creators
- H EL-SHANTI - The Departments of Pediatrics and Medical Technology, Jordan University of Science and Technology P.O. Box 3211, 211-510 Irbid, JordanM KHASAWNEH - The Departments of Pediatrics and Medical Technology, Jordan University of Science and Technology P.O. Box 3211, 211-510 Irbid, JordanD HULSBERG - Department of Pediatrics, University of Iowa, Iowa City, Iowa, United StatesH MAJOR - Department of Pediatrics, University of Iowa, Iowa City, Iowa, United StatesS PATIL - Department of Pediatrics, University of Iowa, Iowa City, Iowa, United States
- Resource Type
- Journal article
- Publication Details
- Annales de génétique, Vol.40(3), pp.175-180
- Publisher
- Société d'édition de l'association d'enseignement médical des hôpitaux de Paris
- PMID
- 9401108
- ISSN
- 0003-3995
- Language
- English
- Date published
- 1997
- Academic Unit
- Stead Family Department of Pediatrics; Medical Genetics and Genomics
- Record Identifier
- 9984093328702771
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