Simultaneous de novo interstitial deletion of 16q21 and intercalary duplication of 19q in a retarded infant with minor dysmorphic features.

A de novo interstitial deletion of 2p23.3-24.3 in a boy presenting with intellectual disability, overgrowth, dysmorphic features, skeletal myopathy, dilated cardiomyopathy

10.1002/ajmg.a.34427 ◽

2012 ◽

Vol 158A (2) ◽

pp. 429-433 ◽

Cited By ~ 10

Author(s):

Moneef Shoukier ◽

Julia Schröder ◽

Barbara Zoll ◽

Peter Burfeind ◽

Clemens Freiberg ◽

...

Keyword(s):

Intellectual Disability ◽

Dilated Cardiomyopathy ◽

De Novo ◽

Interstitial Deletion ◽

Dysmorphic Features ◽

Skeletal Myopathy

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

10.1002/ajmg.a.35239 ◽

2012 ◽

Vol 158A (4) ◽

pp. 882-887 ◽

Cited By ~ 3

Author(s):

Antonella Fabretto ◽

Maria Santa Rocca ◽

Maria Dolores Perrone ◽

Aldo Skabar ◽

Vanna Pecile ◽

...

Keyword(s):

De Novo ◽

Interstitial Deletion ◽

Speech Delay ◽

A de novo 1.9-Mb interstitial deletion of 3q13.2q13.31 in a girl with dysmorphic features, muscle hypotonia, and developmental delay

10.1002/ajmg.a.32963 ◽

2009 ◽

Vol 149A (8) ◽

pp. 1818-1822 ◽

Cited By ~ 10

Author(s):

Keiko Shimojima ◽

Kayoko Saito ◽

Toshiyuki Yamamoto

Keyword(s):

Developmental Delay ◽

De Novo ◽

Interstitial Deletion ◽

Dysmorphic Features ◽

Muscle Hypotonia

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

Cytogenetic and Genome Research ◽

10.1159/000325541 ◽

2011 ◽

Vol 134 (2) ◽

pp. 83-87 ◽

Cited By ~ 10

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

A new de novo deletion 4q13.2q13.3 in a patient with mental retardation, growth retardation and various facial and skeletal dysmorphic features

Neuropediatrics ◽

10.1055/s-0032-1307091 ◽

2012 ◽

Vol 43 (02) ◽

Author(s):

N Schmitz ◽

I Rost ◽

R König ◽

M Kieslich

Keyword(s):

Mental Retardation ◽

Growth Retardation ◽

De Novo ◽

Concurrent de novo interstitial deletion of band 2p22 and reciprocal translocation (3;7)(p21;q22).

Journal of Medical Genetics ◽

10.1136/jmg.25.2.125 ◽

1988 ◽

Vol 25 (2) ◽

pp. 125-127 ◽

Cited By ~ 22

Author(s):

G C Webb ◽

C G Keith ◽

N T Campbell

Keyword(s):

Reciprocal Translocation ◽

De Novo ◽

Interstitial Deletion

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

Clinical Dysmorphology ◽

10.1097/mcd.0000000000000192 ◽

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

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

Genetics and Molecular Research ◽

10.4238/gmr.15028403 ◽

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

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

Congenital Anomalies ◽

10.1111/cga.12346 ◽

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 ◽

Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features

10.1002/ajmg.a.40523 ◽

2018 ◽

Vol 176 (12) ◽

pp. 2548-2553 ◽

Cited By ~ 12

Author(s):

Caleb P. Bupp ◽

Chad R. Schultz ◽

Katie L. Uhl ◽

Surender Rajasekaran ◽

André S. Bachmann

Keyword(s):

Developmental Delay ◽

De Novo ◽

Pathogenic Variant ◽