TY - JOUR
T1 - Monosomy 21
T2 - A possible stepwise evolution of the karyotype
AU - Abeliovich, D.
AU - Carmi, R.
AU - Karplus, M.
AU - Bar-Ziv, J.
AU - Cohen, M. M.
PY - 1979/1/1
Y1 - 1979/1/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0018593160&partnerID=8YFLogxK
U2 - 10.1002/ajmg.1320040311
DO - 10.1002/ajmg.1320040311
M3 - Article
C2 - 574719
AN - SCOPUS:0018593160
SN - 1552-4825
VL - 4
SP - 279
EP - 286
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 3
ER -