De novo HDAC8 mutation causes Rett-related disorder with distinctive facial features and multiple congenital anomalies

2018 ◽  
Vol 40 (5) ◽  
pp. 406-409 ◽  
Author(s):  
Tomoko Saikusa ◽  
Munetsugu Hara ◽  
Kazuhiro Iwama ◽  
Kotaro Yuge ◽  
Chihiro Ohba ◽  
...  
Keyword(s):  
Congenital Anomalies ◽  
De Novo ◽  
Facial Features ◽  
Multiple Congenital Anomalies ◽  
Related Disorder

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

De novo 3q22.1 q24 deletion associated with multiple congenital anomalies, growth retardation and intellectual disability

Gene ◽  
2013 ◽  
Vol 517 (1) ◽  
pp. 82-88 ◽  
Author(s):  
Maggie S. Brett ◽  
Ivy S.L. Ng ◽  
Eileen C.P. Lim ◽  
Min Hwee Yong ◽  
Zhihui Li ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Growth Retardation ◽  
Congenital Anomalies ◽  
De Novo ◽  
Multiple Congenital Anomalies

scholarly journals De Novo Duplication of Chromosome 7 (q21.1-q32); Case Report and Review of the Literature

2010 ◽  
Vol 13 (1) ◽  
pp. 35-37
Author(s):  
F Nasiri ◽  
F Mahjoubi ◽  
G Babamohammadi
Keyword(s):  
Case Report ◽  
Congenital Anomalies ◽  
Cytogenetic Analysis ◽  
De Novo ◽  
Chromosome 7 ◽  
Review Of The Literature ◽  
Multiple Congenital Anomalies ◽  
Upper Lip ◽  
Upper Eyelid ◽  
Partial Duplication

De Novo Duplication of Chromosome 7 (q21.1-q32); Case Report and Review of the LiteratureCytogenetic analysis of a 1-year-old boy with multiple congenital anomalies revealed partial duplication of the chromosome 7q21.2-q32 band region. His main features included: frontal bossing, small jaw, low-set ears, deep-set eyes, strabismus, drooping left upper eyelid, widely-spaced eyes, short nose, long philtrum, down-curved upper lip, camptodactyly and hypotonia.

scholarly journals Delineation of a de novo 7q21.3q31.1 Deletion by CGH-SNP Arrays in a Girl with Multiple Congenital Anomalies Including Severe Glaucoma

2013 ◽  
Author(s):  
L. Martínez-Jacobo ◽  
C. Córdova-Fletes ◽  
R. Ortiz-López ◽  
F. Rivas ◽  
C. Saucedo-Carrasco ◽  
...  
Keyword(s):  
Congenital Anomalies ◽  
De Novo ◽  
Multiple Congenital Anomalies ◽  
Snp Arrays

scholarly journals Multiple de novo copy number variations in two subjects with developmental problems and multiple congenital anomalies

2012 ◽  
Vol 6 (S6) ◽  
Author(s):  
Pengfei Liu ◽  
Klaudia Walter ◽  
Karin Writzl ◽  
Violet Gelowani ◽  
Sarah Lindsay ◽  
...  
Keyword(s):  
Congenital Anomalies ◽  
Copy Number ◽  
De Novo ◽  
Copy Number Variations ◽  
Multiple Congenital Anomalies ◽  
Developmental Problems

De novo reciprocal 1p;2q translocation in a child with multiple congenital anomalies/mental retardation syndrome

1989 ◽  
Vol 32 (1) ◽  
pp. 36-41 ◽  
Author(s):  
David Chitayat ◽  
Carrie L. Fagerstrom ◽  
Dagmar K. Kalousek ◽  
Jack Rootman ◽  
Glenn P. Taylor ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Congenital Anomalies ◽  
De Novo ◽  
Multiple Congenital Anomalies
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