Monosomy 21: A possible stepwise evolution of the karyotype

D. Abeliovich, R. Carmi, M. Karplus, J. Bar-Ziv, M. M. Cohen

Research output: Contribution to journalArticlepeer-review

19 Scopus citations


The authors 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 3 different cell lines in the various tissues examined; 45,XX,-21/46,XX,del(21)(q11) 46,XX. The existence of these 3 lines suggests a possible explanation for the few cases of 'complete monosomy 21' which have been reported.

Original languageEnglish
Pages (from-to)279-286
Number of pages8
JournalAmerican Journal of Medical Genetics
Issue number3
StatePublished - 1 Jan 1979

ASJC Scopus subject areas

  • Genetics(clinical)


Dive into the research topics of 'Monosomy 21: A possible stepwise evolution of the karyotype'. Together they form a unique fingerprint.

Cite this