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MONOSOMY 21 MOSAICISM
Only nine cases of monosomy 21 have been described to our knowledge. Six of them were liveborn and three were from spontaneous abortions. As many of the reports were from the late 1970's or early 1980's when banding techniques were not generally of as high quality as is currently possible, it may be that some of the reports were not in fact true monosomy 21 (i.e. a piece of 21 could have been translocated to a larger chromosome). Only the cases of Joosten et al. and Ma et al. were confirmed molecularly. In the former case, monosomy 21 was prenatally diagnosed in chorionic villi using fluorescent in situ hybridization (FISH), while in the latter, monosomy 21 was observed in a spontaneous abortion from a pregnancy conceived by ICSI. DNA investigations in both cases revealed a paternal origin of the single chromosome 21. Full monosomy 21 in a liveborn may be impossible without being associated with mosaicism.
Petersen et al. (1992) (also Bartsch et al, 1994) reported two interesting cases of mosaicism involving monosomy 21 cells, cells with abnormal chromosomes 21 and cells with uniparental disomy for chromosome 21. In both cases it appears the abnormal chromosome 21 was lost from some cells then replaced with a copy of the 'normal' chromosome 21.
Internet Links
- HUGO Chromosome 21 - Chromosome 21 specific sites
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Human Chromosome 21 - Provides links to gene maps, sequences, associated genetic disorders, nonhuman genetic models, identified genes, research efforts and laboratories, and other information as available. Links are very scientific.
References
Bartsch O, Petersen MB, Stuhlmann I, Mau G, Frantzen M, Schwinger E, Antonarakis SE, Mikkelsen M. (1994) "Compensatory" uniparental disomy of chromosome 21 in two cases. Journal of Medical Genetics, 31(7):534-540. PubMed
Dziuba P, Kziekanowska D, Huebner H. (1976) A female infant with monosomy 21. Human Genetics, 31:351-353. PubMed
Fryns JP, d’Hondt F, Goddeeris P Berghe H, van den. (1977) Full monosomy 21: a clinically recognizable syndrome? Human Genetics, 37: 155-159. PubMed
Garzicic B, Guc-Scekic M, Pilic-Radivojevic G, Ignjatovic M Vilhar N. (1988) A case of monosomy 21. Annals in Genetics, 31: 247-249. PubMed
Herva R, Koivisto M, Seppänen U. (1983) 21-monosomy in a liveborn male infant. Eur J Pediatr 140:57-59 PubMed
Houston CS, Chudley AE. (1981) Separating monosomy 21 from the ‘arthrogryposis basket’. J Can Assoc Radiol 32: 220-223. PubMed
Kuliev AM, Grinberg KN, Kukharenko VI, Kuzalendo VP Bogomazov EA. (1977) Monosomy 21 in a human spontaneous abortus. Morphogenetic disturbances and phenotype at the cellular level. Human Genetics 38: 137-145. PubMed
Joosten AM, De Vos S, Van Opstal D, Brandenburg H, Gaillard JL, Vermeij-Keers C. (1997) Full monosomy 21, prenatally diagnosed by fluorescent in situ hybridization. Prenatal Diagnosis 17(3):271-5. PubMed
Ma S.,Robinson W.P.,LAm R., Yuen B.-H. (2001) Maternal origin of monosomy 21 derived from intracytoplasmic sperm injection. (In press)
Petersen MB, Bartsch O, Adelsberger PA, Mikkelsen M, Schwinger E, Antonarakis SE. (1992) Uniparental isodisomy due to duplication of chromosome 21 occurring in somatic cells monosomic for chromosome 21. Genomics 13: 269-274. PubMed |