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.

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 Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay – New Cases With TRAF7 Variants

2021 ◽  
Vol 8 ◽  
Author(s):  
Justyna Paprocka ◽  
Magdalena Nowak ◽  
Maria Nieć ◽  
Izabela Janik ◽  
Małgorzata Rydzanicz ◽  
...  
Keyword(s):  
Case Report ◽  
Developmental Delay ◽  
Congenital Malformations ◽  
Tumor Necrosis ◽  
Tumor Necrosis Factor Receptor ◽  
Germline Variants ◽  
Malformation Syndrome ◽  
Dysmorphic Features ◽  
Necrosis Factor ◽  
Congenital Malformation Syndrome

Germline variants in tumor necrosis factor receptor-associated factor 7 (TRAF7) gene have recently been described in about 50 patients with developmental delay and cardiac, facial, and digital anomalies (CAFDADD). We aimed to depict further the clinical and genetic spectrum associated with TRAF7 germline variants in two additional patients, broaden the mutational spectrum, and support the characteristic clinical variety to facilitate the diagnostics of the syndrome among physician involved in the evaluation of patients with developmental delay/congenital malformations.

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

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
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