Mosaic Trisomy 21/Monosomy 21 in a Living Female Infant

2009 ◽  
Vol 125 (1) ◽  
pp. 26-32 ◽  
Author(s):  
H.P. Nguyen ◽  
A. Riess ◽  
M. Krüger ◽  
P. Bauer ◽  
S. Singer ◽  
...  
1984 ◽  
Vol 104 (2) ◽  
pp. 251-254 ◽  
Author(s):  
Nita L. Seibel ◽  
Amemaris Sommer ◽  
James Miser
Keyword(s):  

1976 ◽  
Vol 31 (3) ◽  
pp. 351-353 ◽  
Author(s):  
P. Dziuba ◽  
D. Dziekanowska ◽  
H. H�bner
Keyword(s):  

1967 ◽  
Vol 16 (4) ◽  
pp. 376-383 ◽  
Author(s):  
N. Ricci ◽  
B. Ventimiglia ◽  
B. Dallapiccola

SUMMARYThe Authors report the results of a cytogenetical investigation on a group of 140 Down's syndrome patients: nine of them had a translocation (D/G or G/G) and four a mosaic (trisomy 21-22/apparently normal); a mongol girl had 48 chromosomes due to the presence of a small centric chromosome and 21-22 trisomy. All other patients had a regular 21-22 trisomy. Some additional morphological anomalies are described, but interpreted as being expression of the normal human karyotype's variability.


The Lancet ◽  
1989 ◽  
Vol 334 (8665) ◽  
pp. 743 ◽  
Author(s):  
John Hardy ◽  
Alison Goate ◽  
Mike Owen ◽  
Martin Rossor

2016 ◽  
Vol 101 (Suppl 1) ◽  
pp. A284.2-A285
Author(s):  
K McCarthy ◽  
AS Griffiths ◽  
N McCallion

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