De novo partial duplication of chromosome 7p in a male with autistic disorder

2001 ◽  
Vol 105 (3) ◽  
pp. 222-225 ◽  
Author(s):  
C.M. Wolpert ◽  
S.L. Donnelly ◽  
M.L. Cuccaro ◽  
D.J. Hedges ◽  
C.P. Poole ◽  
...  
Keyword(s):  
Autistic Disorder ◽  
De Novo ◽  
Partial Duplication

De novo translocation t(5;18)(q33.1;q12.1) associated with autistic disorder

2004 ◽  
Vol 129A (1) ◽  
pp. 98-100 ◽  
Author(s):  
Peter M. Kroisel ◽  
Christian Windpassinger ◽  
Klaus Wagner ◽  
Erwin Petek ◽  
John B. Vincent ◽  
...  
Keyword(s):  
Autistic Disorder ◽  
De Novo ◽  
De Novo Translocation

De novo 13q partial duplication identified by cytogenetic, biochemical and molecular approaches

2008 ◽  
Vol 40 (6) ◽  
pp. 417-422 ◽  
Author(s):  
S. Schwartz ◽  
M. Harris ◽  
R. Ehrenpreis ◽  
A. Zaslav ◽  
L. J. Raffel ◽  
...  
Keyword(s):  
De Novo ◽  
Partial Duplication ◽  
Molecular Approaches

De novo partial duplication of long arm of chromosome 13: dup(13)(q12?q14)

2000 ◽  
Vol 92 (4) ◽  
pp. 296-297 ◽  
Author(s):  
Robert Hermann ◽  
G. Solt�sz ◽  
E. Morava ◽  
G. Kosztol�nyi ◽  
M. Czak�
Keyword(s):  
De Novo ◽  
Partial Duplication ◽  
Chromosome 13

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 De Novo Balanced Translocation t (7;16) (p22.1; p11.2) Associated with Autistic Disorder

2008 ◽  
Vol 2008 ◽  
pp. 1-5 ◽  
Author(s):  
Nadia Bayou ◽  
Ridha M'rad ◽  
Ahlem Belhaj ◽  
Hussein Daoud ◽  
Lamia Ben Jemaa ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Causal Relationship ◽  
Chromosomal Aberrations ◽  
Autistic Disorder ◽  
Fluorescent In Situ Hybridization ◽  
De Novo ◽  
Balanced Translocation ◽  
Bac Clones ◽  
High Incidence

The high incidence of de novo chromosomal aberrations in a population of persons with autism suggests a causal relationship between certain chromosomal aberrations and the occurrence of isolated idiopathic autism. We report on the clinical and cytogenetic findings in a male patient with autism, no physical abnormalities and a de novo balanced (7;16)(p22.1;p16.2) translocation. G-banded chromosomes and fluorescent in situ hybridization (FISH) were used to examine the patient's karyotype as well as his parents'. FISH with specific RP11-BAC clones mapping near 7p22.1 and 16p11.2 was used to refine the location of the breakpoints. This is, in the best of our knowledge, the first report of an individual with autism and this specific chromosomal aberration.

A patient with de-novo partial deletion of Xp (p11.4–pter) and partial duplication of 22q (q11.2–qter)

2008 ◽  
Vol 17 (1) ◽  
pp. 23-26
Author(s):  
Christine M. Armour ◽  
Jean McGowan-Jordan ◽  
Sarah E. Lawrence ◽  
Amélie Bouchard ◽  
Mark Basik ◽  
...  
Keyword(s):  
De Novo ◽  
Partial Deletion ◽  
Partial Duplication
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