Molecular cytogenetic analysis of a constitutional de novo interstitial deletion of chromosome 12p in a boy with developmental delay and congenital anomalies

2002 ◽  
Vol 116A (1) ◽  
pp. 66-70 ◽  
Author(s):  
Birgitta Gläser ◽  
Eva Rossier ◽  
Gotthold Barbi ◽  
Loredana Delle Chiaie ◽  
Christian Blank ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Congenital Anomalies ◽  
Cytogenetic Analysis ◽  
De Novo ◽  
Interstitial Deletion ◽  
Molecular Cytogenetic ◽  
Chromosome 12P

Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences

2006 ◽  
Vol 140A (5) ◽  
pp. 496-502 ◽  
Author(s):  
Andreas Tzschach ◽  
Ines Krause-Plonka ◽  
Corinna Menzel ◽  
Vera Kalscheuer ◽  
Holger Toennies ◽  
...  
Keyword(s):  
Cytogenetic Analysis ◽  
De Novo ◽  
Interstitial Deletion ◽  
Molecular Cytogenetic

Molecular cytogenetic analysis of a de novo 5q31q33 deletion associated multiple congenital anomalies: Case report

1999 ◽  
Vol 82 (2) ◽  
pp. 143-145 ◽  
Author(s):  
Ralph L. Kramer ◽  
Baruch Feldman ◽  
Salah A.D. Ebrahim ◽  
Stefanie B. Kasperski ◽  
Mark P. Johnson ◽  
...  
Keyword(s):  
Case Report ◽  
Congenital Anomalies ◽  
Cytogenetic Analysis ◽  
De Novo ◽  
Multiple Congenital Anomalies ◽  
Molecular Cytogenetic

scholarly journals Prenatal findings and molecular cytogenetic analyses of a de novo interstitial deletion of 1q23.3 encompassing PBX1 gene

2019 ◽  
Vol 58 (2) ◽  
pp. 292-295 ◽  
Author(s):  
Manna Sun ◽  
Jiwu Lou ◽  
Qiaoyi Li ◽  
Jianhong Chen ◽  
Yujuan Li ◽  
...  
Keyword(s):  
De Novo ◽  
Interstitial Deletion ◽  
Molecular Cytogenetic ◽  
Cytogenetic Analyses

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

Familial interstitial deletion of the short arm of chromosome 4 (p15.33–p16.3) characterized by molecular cytogenetic analysis

2008 ◽  
Vol 146A (7) ◽  
pp. 899-903 ◽  
Author(s):  
Audrey Basinko ◽  
Nathalie Douet-Guilbert ◽  
Philippe Parent ◽  
Gilles Blondin ◽  
M. Mingam ◽  
...  
Keyword(s):  
Cytogenetic Analysis ◽  
Interstitial Deletion ◽  
Chromosome 4 ◽  
Molecular Cytogenetic
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