scholarly journals Phenotypic Diversity of 15q11.2 BP1–BP2 Deletion in Three Korean Families with Development Delay and/or Intellectual Disability: A Case Series and Literature Review

Diagnostics ◽  
2021 ◽  
Vol 11 (4) ◽  
pp. 722
Author(s):  
Ji Yoon Han ◽  
Joonhong Park
Keyword(s):  
Intellectual Disability ◽  
Literature Review ◽  
Behavioral Problems ◽  
Phenotypic Diversity ◽  
Case Series ◽  
Brain Morphology ◽  
Deletion Syndrome ◽  
Facial Dysmorphism ◽  
Speech Impairment ◽  
Korean Families

The 15q11.2 breakpoint (BP) 1–BP2 deletion syndrome is emerging as the most frequent pathogenic copy number variation in humans related to neurodevelopmental diseases, with changes in cognition, behavior, and brain morphology. Previous publications have reported that patients with 15q11.2 BP1–BP2 deletion showed intellectual disability (ID), speech impairment, developmental delay (DD), and/or behavioral problems. We describe three new cases, aged 3 or 6 years old and belonging to three unrelated Korean families, with a 350-kb 15q11.2 BP1–BP2 deletion of four highly conserved genes, namely, the TUBGCP5, CYFIP1, NIPA2, and NIPA1 genes. All of our cases presented with global DD and/or ID, and the severity ranged from mild to severe, but common facial dysmorphism and congenital malformations in previous reports were not characteristic. The 15q11.2 BP1–BP2 deletion was inherited from an unaffected parent in all cases. Our three cases, together with previous findings from the literature review, confirm some of the features earlier reported to be associated with 15q11.2 BP1–BP2 deletion and help to further delineate the phenotype associated with 15q11.2 deletion. Identification of more cases with 15q11.2 BP1–BP2 deletion will allow us to obtain a better understanding of the clinical phenotypes. Further explanation of the functions of the genes within the 15q11.2 BP1–BP2 region is required to resolve the pathogenic effects on neurodevelopment.

scholarly journals 22q11.2 deletion syndrome: 20 years of experience from two pediatric immunology units and review of clues for diagnosis and disease management

2021 ◽  
Vol 49 (1) ◽  
pp. 95-100
Author(s):  
Selime Ozen ◽  
Omer Akcal ◽  
Ilke Taskirdi ◽  
Idil Akay Haci ◽  
Neslihan Edeer Karaca ◽  
...  
Keyword(s):  
T Cell ◽  
Cell Subset ◽  
Case Series ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
Cardiac Anomaly ◽  
Recurrent Infections ◽  
Speech Impairment ◽  
22Q11.2 Deletion ◽  
T Cell Subset

Introduction and objectives: The purpose of this study was to evaluate patients diagnosed with 22q11.2 deletion syndrome and determine the clues directing to diagnosis and evaluation of immunological findings for excellent management of the disease. Material and methods: Thirty-three pediatric patients with 22q11.2 deletion syndrome diag-nosed between 1998 and 2019 at Pediatric Immunology Division of Ege University Faculty of Medicine and SBU Izmir Dr Behcet Uz Children’s Education and Research Hospital were evaluated. Results: This study includes the largest case series reported from Turkey. Congenital car-diac anomalies were the most common pathology associated with the syndrome (90.9%). Hypocalcemic symptoms were observed in 13 patients (40%). Twenty-two of the 33 (66.6%) patients were diagnosed before two years of age. Autoimmune diseases, dysmorphic facial findings, recurrent infections, growth retardation, and speech impairment were other clues for diagnosis in older patients. Clinical spectrum and immunological abnormalities of this syn-drome are quite variable. All T-cell subset counts were less than 5th percentile below median by age in one patient (3%) and 10 patients had normal all T-cell subset counts (30.3%). Overall, 69.6% of the patients had normal IgG, IgA, and IgM levels and two patients had panhypogam-maglobulinemia. Recurrent infections were revealed in 75.7% of the patients during follow-up. Conclusions: Presence of cardiac anomaly is more helpful in the diagnosis, especially under two years of age. Patients with immunologically high or standard risk did not show any differ-ence in terms of numbers and severity of infections and autoimmunity.

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.

scholarly journals Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

2015 ◽  
Vol 96 (1) ◽  
pp. 178
Author(s):  
Anneke T. Vulto-van Silfhout ◽  
Shivakumar Rajamanickam ◽  
Philip J. Jensik ◽  
Sarah Vergult ◽  
Nina de Rocker ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Behavioral Problems ◽  
Speech Impairment ◽  
Sand Domain

scholarly journals Homozygous SLC6A17 Mutations Cause Autosomal-Recessive Intellectual Disability with Progressive Tremor, Speech Impairment, and Behavioral Problems

2015 ◽  
Vol 96 (3) ◽  
pp. 386-396 ◽  
Author(s):  
Zafar Iqbal ◽  
Marjolein H. Willemsen ◽  
Marie-Amélie Papon ◽  
Luciana Musante ◽  
Marco Benevento ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Behavioral Problems ◽  
Autosomal Recessive ◽  
Speech Impairment

scholarly journals Non-classical 1p36 deletion in a patient with Duane retraction syndrome: case report and literature review

2020 ◽  
Vol 13 (1) ◽  
Author(s):  
Emiy Yokoyama ◽  
Camilo E. Villarroel ◽  
Sinhué Diaz ◽  
Victoria Del Castillo ◽  
Patricia Pérez-Vera ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
De Novo ◽  
Deletion Syndrome ◽  
Clinical Feature ◽  
Facial Dysmorphism ◽  
Case Presentation ◽  
Ocular Manifestations ◽  
Retraction Syndrome ◽  
Duane Retraction Syndrome

Abstract Background Monosomy of 1p36 is considered the most common terminal microdeletion syndrome. It is characterized by intellectual disability, growth retardation, seizures, congenital anomalies, and distinctive facial features that are absent when the deletion is proximal, beyond the 1p36.32 region. In patients with proximal deletions, little is known about the associated phenotype, since only a few cases have been reported in the literature. Ocular manifestations in patients with classical 1p36 monosomy are frequent and include strabismus, myopia, hypermetropia, and nystagmus. However, as of today only one patient with 1p36 deletion and Duane retraction syndrome (DRS) has been reported. Case presentation We describe a patient with intellectual disability, facial dysmorphism, and bilateral Duane retraction syndrome (DRS) type 1. Array CGH showed a 7.2 Mb de novo deletion from 1p36.31 to 1p36.21. Discussion Our patient displayed DRS, which is not part of the classical phenotype and is not a common clinical feature in 1p36 deletion syndrome; we hypothesized that this could be associated with the overlapping deletion between the distal and proximal 1p36 regions. DRS is one of the Congenital Cranial Dysinnervation Disorders, and a genetic basis for the syndrome has been extensively reported. The HES3 gene is located at 1p36.31 and could be associated with oculomotor alterations, including DRS, since this gene is involved in the development of the 3rd cranial nerve and the 6th cranial nerve’s nucleus. We propose that oculomotor anomalies, including DRS, could be related to proximal 1p36 deletion, warranting a detailed ophthalmologic evaluation of these patients.

A Novel 23.1 Mb Interstitial Deletion Involving 7q22.3q32.1 in a Girl with Short Stature, Motor Delay, and Craniofacial Dysmorphism

2015 ◽  
Vol 145 (1) ◽  
pp. 1-5 ◽  
Author(s):  
Maria del Refugio Rivera-Vega ◽  
Luis A. Gómez-del Angel ◽  
Juan M. Valdes-Miranda ◽  
Adrián Pérez-Cabrera ◽  
Luz M. Gonzalez-Huerta ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Short Stature ◽  
De Novo ◽  
Deletion Syndrome ◽  
Congenital Defects ◽  
Facial Dysmorphism ◽  
Motor Delay ◽  
Craniofacial Dysmorphism ◽  
7Q Deletion ◽  
Omim Database

Interstitial deletions of 7q show a wide phenotypic spectrum that varies with respect to the location and size of the deleted region. They lead to craniofacial dysmorphism with intellectual disability, growth retardation, and various congenital defects. Here, a Mexican girl with microcephaly, facial dysmorphism, short stature, hand anomalies, and intellectual disability was analyzed by CytoScan HD array. Her phenotype was associated with a de novo 7q22.3q32.1 deletion involving 109 loci, 57 of them listed in the OMIM database. This novel deletion increases the knowledge of the variability in the rupture sites of the region and expands the spectrum of molecular and clinical defects of the 7q deletion syndrome.

scholarly journals Genetic Diagnosis of Chromosomal Congenital Anomalies in Albanian Pediatric Patients by Array CGH

2017 ◽  
Vol 5 (5) ◽  
pp. 587-591
Author(s):  
Anila Babameto-Laku ◽  
Dorina Roko ◽  
Gentian Vyshka
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
Congenital Anomalies ◽  
Array Cgh ◽  
International System ◽  
Genetic Diagnosis ◽  
Case Series ◽  
Comparative Genomic ◽  
Facial Dysmorphism ◽  
Chromosomal Anomalies

AIM: The aim of our study was to identify chromosomal imbalances by whole-genome microarray-based comparative genomic hybridization (array CGH) in DNA samples of children in which karyotype results cannot be obtained. The present paper describes the first Albanian experience of an array CGH application.MATERIAL AND METHODS: The cohort included seven children with developmental delay or intellectual disability, facial dysmorphism and congenital anomalies according to clinical criteria, suggestive of chromosomal anomalies. The age range was from newborn to five years old. The cytogenetic analysis determined by a standard method of G-banding according to the International System for Human Cytogenetic Nomenclature (ISCN 2005) was performed for all our patients, while array CGH was performed on genomic DNA isolated from the blood of 7 cases.RESULTS: Among the seven patients analysed with array CGH, three patients resulted in duplication and one deletion, one patient with a microdeletion and three patients with duplication. Array CGH facilitated the recognition of submicroscopic deletions and duplications as risk factors for genetic diagnosis in all our patients.CONCLUSIONS: Our case series with congenital chromosomal anomalies confirms the high diagnostic value of the method, as suggested by previous studies. The technique must be available also in less developed countries, to significantly improve the genetic diagnosis of paediatric patients with developmental delay or intellectual disability, congenital anomalies and dysmorphic features. The identification of chromosomal abnormalities in these patients and the genetic counselling will provide family members with an explanation for their child’s developmental disability or birth defect, allowing better information about recurrence risks, and permit the anticipation of certain medical problems that require intervention.

Stridor as one of the symptoms of 5p deletion syndrome in a five-month-old child

2017 ◽  
Vol 6 (3) ◽  
pp. 37-42
Author(s):  
Katarzyna Malicka ◽  
Ewa Grochowska-Bohatyrewicz ◽  
Aleksandra Pietrzyk ◽  
Stecewicz Iwona ◽  
Ewa Jaworowska ◽  
...  
Keyword(s):  
Behavioral Problems ◽  
Genetic Disorder ◽  
Later Life ◽  
Deletion Syndrome ◽  
Type I ◽  
Speech Impairment ◽  
Motor Delay ◽  
Feeding Difficulties ◽  
Dysmorphic Features ◽  
5P Deletion

The 5p deletion syndrome (5p-, Cri-du-chat syndrome, CdCS) is a genetic disorder which results from a partial deletion of the short arm of chromosome 5. It was first described by Lejeune et al. in 1963. The incidence ranges from 1:15 000 to 1:50 000 live births. The 5p- is usually diagnosed in the first days of life because of the characteristic monotonous high pitched cat-like cry and relatively constant dysmorphic features. Other symptoms often present in the neonatal period include low birth weight, muscle hypotonia, asphyxia and feeding difficulties due to impaired suction and swallowing, which may all lead to failure to thrive. Organ malformations, with various larynx abnormalities, although not very frequent, can also be present. Symptoms that are prevalent in later life include severe motor delay and intellectual disability with significant speech impairment, as well as behavioral problems. The case report presents a female infant in her 5th month of life in whom, despite the typical symptoms of 5p-, stridor and episodes of choking were the main problems. Laryngotracheal endoscopy revealed the type I laryngeal cleft. Genetic analysis confirmed the diagnose of 5p- syndrome. The presented case shows that it is critically important to perform a further investigation and refer a child with laryngological problems coexisting with dysmorphic features to a clinical geneticist.

Stridor as one of the symptoms of 5p deletion syndrome in a five-month-old child

2017 ◽  
Vol 6 (3) ◽  
pp. 16-21
Author(s):  
Przemysław Hubert Krawczyk ◽  
Dariusz Kaczmarczyk
Keyword(s):  
Behavioral Problems ◽  
Genetic Disorder ◽  
Later Life ◽  
Deletion Syndrome ◽  
Type I ◽  
Speech Impairment ◽  
Motor Delay ◽  
Feeding Difficulties ◽  
Dysmorphic Features ◽  
5P Deletion

The 5p deletion syndrome (5p-, Cri-du-chat syndrome, CdCS) is a genetic disorder which results from a partial deletion of the short arm of chromosome 5. It was first described by Lejeune et al. in 1963. The incidence ranges from 1:15 000 to 1:50 000 live births. The 5p- is usually diagnosed in the first days of life because of the characteristic monotonous high pitched cat-like cry and relatively constant dysmorphic features. Other symptoms often present in the neonatal period include low birth weight, muscle hypotonia, asphyxia and feeding difficulties due to impaired suction and swallowing, which may all lead to failure to thrive. Organ malformations, with various larynx abnormalities, although not very frequent, can also be present. Symptoms that are prevalent in later life include severe motor delay and intellectual disability with significant speech impairment, as well as behavioral problems. The case report presents a female infant in her 5th month of life in whom, despite the typical symptoms of 5p-, stridor and episodes of choking were the main problems. Laryngotracheal endoscopy revealed the type I laryngeal cleft. Genetic analysis confirmed the diagnose of 5p- syndrome. The presented case shows that it is critically important to perform a further investigation and refer a child with laryngological problems coexisting with dysmorphic features to a clinical geneticist.

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