First report of de novo 12q14.2-q23.3 duplication: patient with multiple congenital anomalies, neurodevelopmental delay, and a connective tissue disorder-like phenotype including cutis laxa

2020 ◽  
Vol 29 (3) ◽  
pp. 132-136
Author(s):  
Rohan Khazanchi ◽  
Anji T. Yetman ◽  
Jennifer N. Sanmann ◽  
Lois J. Starr
Keyword(s):  
Connective Tissue ◽  
Congenital Anomalies ◽  
De Novo ◽  
Connective Tissue Disorder ◽  
Cutis Laxa ◽  
Multiple Congenital Anomalies ◽  
First Report ◽  
Neurodevelopmental Delay

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

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

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

MARFAN SYNDROME AND PREGNANCY: CLINICAL IMPLICATIONS AND MANAGEMENT

2010 ◽  
Vol 21 (3) ◽  
pp. 225-241
Author(s):  
ARIADNA C GRIGORIU ◽  
JACK COLMAN ◽  
CANDICE K SILVERSIDES ◽  
RACHEL WALD ◽  
SAMUEL C SIU ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Marfan Syndrome ◽  
Autosomal Dominant ◽  
De Novo ◽  
Connective Tissue Disorder ◽  
Multiple Organ ◽  
Clinical Implications ◽  
Organ Systems

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder that affects multiple organ systems, primarily the cardiovascular, ocular and skeletal. It is the most common inherited condition affecting the heart and the aorta, occurring in 1:5000–1:9800 people. There is no ethnic or gender predisposition; 20 to 35% of cases arise fromde novomutations.

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