scholarly journals Defining the Critical Region for Intellectual Disability and Brain Malformations in 6q27 Microdeletions

2019 ◽  
Vol 10 (4) ◽  
pp. 202-208 ◽  
Author(s):  
Marcela D. Hanna ◽  
Patricia N. Moretti ◽  
Claudiner P. de Oliveira ◽  
Maria T. A. Rosa ◽  
Beatriz R. Versiani ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Critical Region ◽  
Brain Malformations

Cleft Lip Palate in a Patient with 5q14.3 Deletion Syndrome: A Possible Unreported Feature?

2022 ◽  
pp. 1-8
Author(s):  
Liliana Fernández Hernández ◽  
Miguel A. Alcántara Ortigoza ◽  
Sandra E. Ramos Angeles ◽  
Ariadna González-del Angel
Keyword(s):  
Intellectual Disability ◽  
Sanger Sequencing ◽  
Cleft Lip ◽  
De Novo ◽  
Deletion Syndrome ◽  
Facial Dysmorphism ◽  
Brain Malformations ◽  
Bilateral Cleft Lip ◽  
Cleft Lip Palate ◽  
Distinctive Phenotype

5q14.3 deletion syndrome (MIM#613443) is an uncommon but well-known syndrome characterized by intellectual disability, epilepsy, hypotonia, brain malformations, and facial dysmorphism. Most patients with this syndrome have lost one copy of the <i>MEF2C</i> gene (MIM*600662), whose haploinsufficiency is considered to be responsible for the distinctive phenotype. To date, nearly 40 cases have been reported; the deletion size and clinical spectrum are variable, and at least 6 cases without <i>MEF2C</i> involvement have been documented. We herein report the clinical and cytogenomic findings of an 11-year-old girl who has a 5q14.3q21.1 de novo deletion that does not involve <i>MEF2C</i> but shares the clinical features described in other reported patients. Moreover, she additionally presents with bilateral cleft-lip palate (CLP), which has not been previously reported as a feature of the syndrome. The most frequent syndromic forms of CLP were ruled out in our patient mainly by clinical examination, and Sanger sequencing was performed to discard the presence of a <i>TBX22</i> gene (MIM*300307) defect. Our report suggests CLP as a possible unreported feature and redefines the critical phenotypic regions of 5q14.3 deletion syndrome.

Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA

2014 ◽  
Vol 57 (4) ◽  
pp. 163-168 ◽  
Author(s):  
Toshiyuki Yamamoto ◽  
Maria Antonietta Mencarelli ◽  
Chiara Di Marco ◽  
Mafalda Mucciolo ◽  
Marina Vascotto ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Critical Region

Clinical Characterization, Genetics, and Long-Term Follow-up of a Large Cohort of Patients With Agenesis of the Corpus Callosum

2016 ◽  
Vol 32 (1) ◽  
pp. 60-71 ◽  
Author(s):  
Romina Romaniello ◽  
Susan Marelli ◽  
Roberto Giorda ◽  
Maria F. Bedeschi ◽  
Maria C. Bonaglia ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Corpus Callosum ◽  
Genetic Diagnosis ◽  
Language Disorders ◽  
Agenesis Of Corpus Callosum ◽  
Brain Malformations ◽  
Genetic Features ◽  
Long Term Follow Up

To gain a better understanding of the clinical and genetic features associated with agenesis of corpus callosum, we enrolled and characterized 162 patients with complete or partial agenesis of corpus callosum. Clinical and genetic protocols allowed us to categorize patients as syndromic subjects, affected by complex extra-brain malformations, and nonsyndromic subjects without any additional anomalies. We observed slight differences in sex ratio (56% males) and agenesis type (52% complete). Syndromic agenesis of corpus callosum subjects were prevalent (69%). We detected associated cerebral malformations in 48% of patients. Neuromotor impairment, cognitive and language disorders, and epilepsy were frequently present, regardless of the agenesis of corpus callosum subtype. Long-term follow-up allowed us to define additional indicators: syndromic agenesis of corpus callosum plus patients showed the most severe clinical features while isolated complete agenesis of corpus callosum patients had the mildest symptoms, although we observed intellectual disability (64%) and epilepsy (15%) in both categories. We achieved a definitive (clinical and/or genetic) diagnosis in 42% of subjects.

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.

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 5q31 Microdeletions: Definition of a Critical Region and Analysis ofLRRTM2,a Candidate Gene for Intellectual Disability

2012 ◽  
Vol 3 (2) ◽  
pp. 68-75 ◽  
Author(s):  
W. Kleffmann ◽  
A.M. Zink ◽  
J.A. Lee ◽  
J. Senderek ◽  
E. Mangold ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Candidate Gene ◽  
Critical Region ◽  
Definition Of
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