Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q

2006 ◽  
Vol 140A (14) ◽  
pp. 1594-1600 ◽  
Author(s):  
Chih-Ping Chen ◽  
Shuan-Pei Lin ◽  
Chyi-Chyang Lin ◽  
Yann-Jang Chen ◽  
Schu-Rern Chern ◽  
...  
Keyword(s):  
Cytogenetic Analysis ◽  
De Novo ◽  
Partial Trisomy ◽  
Review Of The Literature ◽  
Molecular Cytogenetic ◽  
Partial Trisomy 5Q

Perinatal findings and molecular cytogenetic analysis ofde novo partial trisomy 16q (16q22.1?qter) and partial monosomy 20q (20q13.3?qter)

2005 ◽  
Vol 25 (2) ◽  
pp. 112-118 ◽  
Author(s):  
Chih-Ping Chen ◽  
Shuan-Pei Lin ◽  
Chyi-Chyang Lin ◽  
Yueh-Chun Li ◽  
Schu-Rern Chern ◽  
...  
Keyword(s):  
Cytogenetic Analysis ◽  
Partial Trisomy ◽  
Partial Monosomy ◽  
Molecular Cytogenetic

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.

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