Partial trisomy 8q and partial monosomy 18p: a case report

2004 ◽  
Vol 47 (4) ◽  
pp. 399-403 ◽  
Author(s):  
S. Puvabanditsin ◽  
E. Garrow ◽  
F.A. Rabi ◽  
R. Titapiwatanakun ◽  
K.M. Kuniyoshi
Keyword(s):  
Case Report ◽  
Partial Trisomy ◽  
Partial Monosomy

Partial trisomy 15q23 and partial monosomy 5p15.32: Case report and a literature review

2013 ◽  
Vol 161 (12) ◽  
pp. 3201-3204 ◽  
Author(s):  
Surasak Puvabanditsin ◽  
Imteyaz Khan ◽  
Eugene Garrow ◽  
Christina Botti ◽  
George Lambert ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Partial Trisomy ◽  
Partial Monosomy

scholarly journals Partial monosomy 13q and partial trisomy 18p: case report with necropsy findings.

1986 ◽  
Vol 23 (3) ◽  
pp. 260-263 ◽  
Author(s):  
D Beneck ◽  
M A Greco ◽  
S R Wolman ◽  
L E McMorrow ◽  
V Jansen ◽  
...  
Keyword(s):  
Case Report ◽  
Partial Trisomy ◽  
Partial Monosomy ◽  
Trisomy 18P

Antenatal Diagnosis of Partial Trisomy 8 and Partial Monosomy 1: A Case Report

2012 ◽  
Vol 12 (3) ◽  
pp. 191-195
Author(s):  
Davut Güven ◽  
Kadir Bakay ◽  
Ayse Özdemir ◽  
Idris Koçak
Keyword(s):  
Case Report ◽  
Antenatal Diagnosis ◽  
Partial Trisomy ◽  
Trisomy 8 ◽  
Partial Monosomy

scholarly journals Case Report 3p partial trisomy and 13q partial monosomy with congenital malformations and psychomotor developmental delay

2013 ◽  
Vol 12 (3) ◽  
pp. 2562-2566 ◽  
Author(s):  
M.J. Rodovalho-Doriqui ◽  
P.L. Freitas ◽  
J.D. Pinho ◽  
L.R. Cavalli ◽  
S.R.F. Pereira
Keyword(s):  
Case Report ◽  
Developmental Delay ◽  
Congenital Malformations ◽  
Partial Trisomy ◽  
Partial Monosomy

scholarly journals Familial Translocation t(2;4) (q37.3;p16.3), Resulting in a Partial Trisomy of 2q (or 4p) and a Partial Monosomy of 4p (or 2q), Causes Dysplasia

2021 ◽  
Vol 12 ◽  
Author(s):  
Jian Wang ◽  
Shiyuan Zhou ◽  
Fei He ◽  
Xuelian Zhang ◽  
Jianqi Lu ◽  
...  
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Developmental Delay ◽  
Critical Region ◽  
Congenital Anomalies ◽  
Clinical Symptoms ◽  
Partial Trisomy ◽  
Multiple Congenital Anomalies ◽  
Microdeletion Syndrome ◽  
Partial Monosomy

Background: Wolf-Hirschhorn syndrome, a well-known contiguous microdeletion syndrome, is caused by deletions on chromosome 4p. While the clinical symptoms and the critical region for this disorder have been identified based on genotype-phenotype correlations, duplications in this region have been infrequently reported.Conclusion: Our case report shows that both deletions and duplications of the Wolf-Hirshhorn critical region cause intellectual disability/developmental delay and multiple congenital anomalies.

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