Monosomy 21: A possible stepwise evolution of the karyotype
- 1 January 1979
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 4 (3), 279-286
- https://doi.org/10.1002/ajmg.1320040311
Abstract
We describe a female infant with manifestations of complete monosomy for chromosome 21 intrauterine growth retardation, failure to thrive, craniofacial anomalies, arthrogryposis‐like features, and psychomotor retardation. Chromosome analysis demonstrated mosaicism for three different cell lines in the various tissues examined; 45,XX,–21/46,XX,del(21)(q11) 46,XX. The existence of these three lines suggests a possible explanation for the few cases of “complete monosomy 21” which have been reported.Keywords
This publication has 19 references indexed in Scilit:
- A child with presumptive monosomy 21 (45,XY,–21) in a family in which some members are Gq–Cytogenetic and Genome Research, 1976
- 21 Monosomy in a retarded female infantJournal of Medical Genetics, 1974
- A “G” DELETION SYNDROME ANTI‐MONGOLISMActa Paediatrica, 1973
- A 45,XX,21--child: attempt at a cytological and clinical interpretation of the karyotype.Journal of Medical Genetics, 1972
- Chromosome studies in selected spontaneous abortions. IV. Unusual cytogenetic disordersTeratology, 1972
- Monosomy G: case report and review of the literature.Journal of Medical Genetics, 1971
- Monosomy for a G autosome.Archives of Disease in Childhood, 1969
- Autoradiographic Investigations of Centric Fragments and Rings in Patients with Stigmata of Gonadal DysgenesisCytogenetic and Genome Research, 1967
- APPARENT CRI-DU-CHAT AND "ANTIMONGOLISM" IN ONE PATIENTThe Lancet, 1966
- ANTI-MONGOLISM STUDIES IN AN INFANT WITH A PARTIAL MONOSOMY OF THE 21 CHROMOSOMEThe Lancet, 1966