scholarly journals A child with multiple congenital anomalies and karyotype 46,XY,del(14)(q31q32.3): Further delineation of chromosome 14 interstitial deletion syndrome

1990 ◽  
Vol 37 (4) ◽  
pp. 471-474 ◽  
Author(s):  
Jerome L. Gorski ◽  
Wendy R. Uhlmann ◽  
Thomas W. Glover
Keyword(s):  
Congenital Anomalies ◽  
Interstitial Deletion ◽  
Deletion Syndrome ◽  
Multiple Congenital Anomalies ◽  
Chromosome 14

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

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

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

scholarly journals Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease

Proceedings ◽  
2020 ◽  
Vol 76 (1) ◽  
pp. 8
Author(s):  
Marisol Delea ◽  
Lucía Massara ◽  
Lucía Espeche ◽  
María Bidondo ◽  
Pablo Barbero ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Anomalies ◽  
Congenital Heart ◽  
Diagnostic Yield ◽  
Copy Number Variations ◽  
Public Hospitals ◽  
Deletion Syndrome ◽  
Comparative Genomic ◽  
Multiple Congenital Anomalies

In this work, we aim to identify the genetic causes of pathogenesis in Argentinean patients with multiple congenital anomalies (MCA) and isolated Congenital Heart Disease (iCHD). We recruited 174 MCA and 194 iCHD patients from 15 public hospitals. Karyotyping was performed for MCA patients, and MLPA for conotruncal CHD or suspected 2q11 Deletion Syndrome (22q11DS). Selected samples were analyzed by array-CGH (Comparative genomic hybridization) (n = 89) and/or Next-Generation Sequencing (NGS) (n = 18). We successfully analyzed 252/368 patients: 14 had cytogenetic abnormalities, 27 had imbalances in 22q11, and 16 had other clinically relevant copy number variations (CNVs). NGS revealed 12 relevant nucleotide variants (five novels). Combining molecular, clinical and genetic evaluations, the diagnostic yield was 26.2%.

Sign in / Sign up

Export Citation Format

Share Document