De Novo Interstitial Deletion of 1q32.2–q32.3 Including the Entire IRF6 Gene in a Patient with Oral Cleft and Other Dysmorphic Features

2011 ◽  
Vol 134 (2) ◽  
pp. 83-87 ◽  
Author(s):  
I. Salahshourifar ◽  
A.S. Halim ◽  
W.A.W. Sulaiman ◽  
R. Ariffin ◽  
N. Naili Muhamad Nor ◽  
...  
Keyword(s):  
De Novo ◽  
Interstitial Deletion ◽  
Oral Cleft ◽  
Dysmorphic Features ◽  
I Gene

De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features

2012 ◽  
Vol 158A (4) ◽  
pp. 882-887 ◽  
Author(s):  
Antonella Fabretto ◽  
Maria Santa Rocca ◽  
Maria Dolores Perrone ◽  
Aldo Skabar ◽  
Vanna Pecile ◽  
...  
Keyword(s):  
De Novo ◽  
Interstitial Deletion ◽  
Speech Delay ◽  
Dysmorphic Features

First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9 Mbp interstitial deletion at Xq11.1q11.2

2017 ◽  
Vol 26 (4) ◽  
pp. 231-234
Author(s):  
Marie-Laure Vuillaume ◽  
Anna-Gaelle Valard ◽  
Nada Houcinat ◽  
Julie Bouron ◽  
Cécile Boucher ◽  
...  
Keyword(s):  
De Novo ◽  
Interstitial Deletion ◽  
Osteopathia Striata ◽  
Cranial Sclerosis

scholarly journals De novo interstitial deletion in the long arm of chromosome 11: a case report

2016 ◽  
Vol 15 (2) ◽  
Author(s):  
L.L. Li ◽  
H.G. Zhang ◽  
X.G. Shao ◽  
J.C. Gao ◽  
H.Y. Zhang ◽  
...  
Keyword(s):  
Case Report ◽  
De Novo ◽  
Interstitial Deletion ◽  
Chromosome 11

scholarly journals Site-specific methylation of adenine in the nuclear genome of a eucaryote, Tetrahymena thermophila.

1986 ◽  
Vol 6 (7) ◽  
pp. 2364-2370 ◽  
Author(s):  
G S Harrison ◽  
R C Findly ◽  
K M Karrer
Keyword(s):  
Heat Shock ◽  
Protein Gene ◽  
De Novo ◽  
Tetrahymena Thermophila ◽  
Nuclear Genome ◽  
Histone H4 ◽  
Ciliated Protozoan ◽  
Site Specific ◽  
Logarithmic Growth ◽  
I Gene

DNA in the polyploid macronucleus of the ciliated protozoan Tetrahymena thermophila contains the modified base N6-methyladenine. We identified two GATC sites which are methylated in most or all of the 45 copies of the macronuclear genome. One site is 2 kilobases 5' to the histone H4-I gene, and the other is 5 kilobases 3' to the 73-kilodalton heat shock protein gene. These sites are de novo methylated between 10 and 16 h after initiation of conjugation, during macronuclear anlage development. The methylation states of these two GATC sites and four other unmethylated GATC sites do not change in the DNA of cells cultured under conditions which change the activity of the genes, including logarithmic growth, starvation, and heat shock.

Developmental delay and dysmorphic features in a girl with a de novo 5.4 Mb deletion of 13q12.11‐q12.13

2019 ◽  
Vol 60 (2) ◽  
pp. 73-74
Author(s):  
Makiko Tominaga ◽  
Toshiyuki Saito ◽  
Mitsuo Masuno ◽  
You Umeda ◽  
Kenji Kurosawa
Keyword(s):  
Developmental Delay ◽  
De Novo ◽  
Dysmorphic Features
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