A large interstitial deletion of 17p13.1p11.2 involving the Smith-Magenis chromosome region in a girl with multiple congenital anomalies

2005 ◽  
Vol 140A (1) ◽  
pp. 88-91 ◽  
Author(s):  
Toshiyuki Yamamoto ◽  
Hideaki Ueda ◽  
Motoyoshi Kawataki ◽  
Michiko Yamanaka ◽  
Toshihide Asou ◽  
...  
Keyword(s):  
Congenital Anomalies ◽  
Chromosome Region ◽  
Interstitial Deletion ◽  
Multiple Congenital Anomalies

scholarly journals An interstitial deletion of chromosome 9 in a girl with multiple congenital anomalies.

1977 ◽  
Vol 14 (6) ◽  
pp. 455-459 ◽  
Author(s):  
L Wisniewski ◽  
G Purdy ◽  
T Hassold ◽  
C Wilson ◽  
K Bentley ◽  
...  
Keyword(s):  
Congenital Anomalies ◽  
Interstitial Deletion ◽  
Chromosome 9 ◽  
Multiple Congenital Anomalies

Unique de novo interstitial deletion of chromosome 17, del(17) (q23.2q24.3) in a female newborn with multiple congenital anomalies

1995 ◽  
Vol 55 (1) ◽  
pp. 30-32 ◽  
Author(s):  
Michael L. Levin ◽  
Lisa G. Shaffer ◽  
Richard A. Lewis ◽  
Mary V. Gresik ◽  
James R. Lupski
Keyword(s):  
Congenital Anomalies ◽  
De Novo ◽  
Interstitial Deletion ◽  
Chromosome 17 ◽  
Multiple Congenital Anomalies

Interstitial deletion of chromosome 2q32-34 associated with multiple congenital anomalies and a urea cycle defect (CPS I deficiency)

2004 ◽  
Vol 128A (3) ◽  
pp. 311-315 ◽  
Author(s):  
M.L. Loscalzo ◽  
R.L. Galczynski ◽  
A. Hamosh ◽  
M. Summar ◽  
J.M. Chinsky ◽  
...  
Keyword(s):  
Congenital Anomalies ◽  
Urea Cycle ◽  
Interstitial Deletion ◽  
Multiple Congenital Anomalies ◽  
Urea Cycle Defect
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