title: Monosomy 21: a possible stepwise evolution of the karyotype.
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.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000782:Aneuploidy; D002872:Chromosome Deletion; D002904:Chromosomes, Human, 21-22 and Y; D003394:Craniofacial Dysostosis / Q000235:genetics; D003878:Dermatoglyphics; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D009030:Mosaicism; D011247:Pregnancy; D011596:Psychomotor Disorders / Q000235:genetics