Further refining the critical region of 10q26 microdeletion syndrome: A possible involvement of INSYN2 and NPS in the cognitive phenotype

2021 ◽  
pp. 104287
Author(s):  
Florian Cherik ◽  
Mathis Lepage ◽  
Ganaelle Remerand ◽  
Christine Francannet ◽  
Amélie Delabaere ◽  
...  
Keyword(s):  
Critical Region ◽  
Microdeletion Syndrome ◽  
Cognitive Phenotype

scholarly journals A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation

2014 ◽  
Vol 2014 ◽  
pp. 1-5
Author(s):  
Giorgia Mandrile ◽  
Eleonora Di Gregorio ◽  
Alessandro Calcia ◽  
Alessandro Brussino ◽  
Enrico Grosso ◽  
...  
Keyword(s):  
Clinical Features ◽  
Critical Region ◽  
Array Cgh ◽  
De Novo ◽  
Genetic Disorder ◽  
Phenotypic Expression ◽  
Microdeletion Syndrome ◽  
Complex Rearrangement

A recently described genetic disorder has been associated with 13q12.3 microdeletion spanning three genes, namely,KATNAL1, LINC00426, andHMGB1. Here, we report a new case with similar clinical features that we have followed from birth to 5 years old. The child carried a complex rearrangement with a double translocation: 46,XX,t(7;13)(p15;q14),t(11;15)(q23;q22). Array-CGH identified ade novomicrodeletion at 13q12.2q13.1 spanning 3–3.4 Mb and overlapping 13q12.3 critical region. Clinical features resembling those reported in the literature confirm the existence of a distinct 13q12.3 microdeletion syndrome and provide further evidence that is useful to characterize its phenotypic expression during the 5 years of development.

New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome

2011 ◽  
Vol 54 (1) ◽  
pp. 42-49 ◽  
Author(s):  
Jill A. Rosenfeld ◽  
Yves Lacassie ◽  
Dima El-Khechen ◽  
Luis F. Escobar ◽  
James Reggin ◽  
...  
Keyword(s):  
Critical Region ◽  
Microdeletion Syndrome

scholarly journals Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome

2015 ◽  
Vol 8 (1) ◽  
Author(s):  
Rita Genesio ◽  
Paolo Fontana ◽  
Angela Mormile ◽  
Alberto Casertano ◽  
Mariateresa Falco ◽  
...  
Keyword(s):  
Critical Region ◽  
Microdeletion Syndrome

A de novo deletion in a boy with cerebral palsy suggests a refined critical region for the 4q21.22 microdeletion syndrome

2017 ◽  
Vol 173 (5) ◽  
pp. 1287-1293 ◽  
Author(s):  
Mehdi Zarrei ◽  
Daniele Merico ◽  
Barbara Kellam ◽  
Worrawat Engchuan ◽  
Tara Scriver ◽  
...  
Keyword(s):  
Cerebral Palsy ◽  
Critical Region ◽  
De Novo ◽  
Microdeletion Syndrome

scholarly journals De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability

2014 ◽  
Vol 94 (4) ◽  
pp. 618-624 ◽  
Author(s):  
Detelina Grozeva ◽  
Keren Carss ◽  
Olivera Spasic-Boskovic ◽  
Michael J. Parker ◽  
Hayley Archer ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Critical Region ◽  
De Novo ◽  
Loss Of Function ◽  
Microdeletion Syndrome

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.

19q13 microdeletion syndrome: Further refining the critical region

2012 ◽  
Vol 55 (6-7) ◽  
pp. 429-432 ◽  
Author(s):  
Francesca Forzano ◽  
Flavia Napoli ◽  
Vera Uliana ◽  
Michela Malacarne ◽  
Chiara Viaggi ◽  
...  
Keyword(s):  
Critical Region ◽  
Microdeletion Syndrome
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