scholarly journals 15q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Yahya Benbouchta ◽  
Nicole De Leeuw ◽  
Saadia Amasdl ◽  
Aziza Sbiti ◽  
Dominique Smeets ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
Candidate Genes ◽  
Congenital Heart Defect ◽  
Cytogenetic Analysis ◽  
Congenital Heart ◽  
Clinical Manifestations ◽  
Growth Restriction ◽  
Septal Defects ◽  
Heart Defect

Abstract Background 15q26 deletion is a relatively rare chromosomal disorder, and it is described only in few cases. Patients with this aberration show many signs and symptoms, particularly pre- and postnatal growth restriction, developmental delay, microcephaly, intellectual disability and various congenital malformations. Case presentation We report on a girl, 4 years old, of consanguineous parents, with a 15q26 deletion. Clinical manifestations included failure to thrive, developmental delay, microcephaly, dysmorphic facies with broad forehead, hypertelorism, narrowed eyelid slits and protruding columella. The patient also showed skeletal abnormalities, especially clinodactyly of the 5th finger, varus equine right foot and left club foot. Additionally, she had teething delay and divergent strabismus. Heart ultrasound displayed two atrial septal defects with left-to-right shunt, enlarging the right cavities. Routine cytogenetic analysis revealed a shortened 15q chromosome. Subsequent array analysis disclosed a terminal 9.15 Mb deletion at subband 15q26.1-q26.3. Four candidate genes associated with 15q26 deletion phenotype were within the deleted region, i.e. IGF1R, NR2F2, CHD2 and MEF2A. Conclusion We report on an additional case of 15q26 monosomy, characterized by array-CGH. Molecular cytogenetic analysis allowed us to identify the exact size of the deletion, and four candidate genes for genotype-phenotype correlation. 15q26 monosomy should be considered when growth retardation is associated with hearing anomalies and congenital heart defect, especially atrioventricular septal defects (AVSDs) and/or aortic arch anomaly (AAA).

scholarly journals 15q26 Deletion in a Patient with Congenital Heart Defect, Growth Restriction and Intellectual Disability: Case Report and Literature Review

2020 ◽  
Author(s):  
Yahya BENBOUCHTA ◽  
Nicole de Leeuw ◽  
Saadia Amasdl ◽  
Aziza Sbiti ◽  
Dominique Smeets ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
De Novo ◽  
Clinical Manifestations ◽  
Failure To Thrive ◽  
Postnatal Growth ◽  
Growth Restriction ◽  
Septal Defects ◽  
Aortic Arch Anomaly ◽  
Divergent Strabismus ◽  
Heart Defect

Abstract Background 15q26 deletion is a relatively rare chromosomal disorder described in only few cases. Patients with this aberration display numerous symptoms particularly, pre- and postnatal growth restriction, microcephaly, intellectual disability, dysmorphic gestalt and various congenital malformations. Case presentation We report on a girl, four years old, of consanguineous parents, with a de novo 15q26 deletion. Clinical manifestations included failure to thrive, microcephaly, dysmorphic facies with broad forehead, hypertelorism, narrowed eyelid slits and protruding columella. The patient also showed skeletal abnormalities, especially clinodactyly of the 5th finger, varus equine right foot and left club foot. Additionally, she had teething delay and divergent strabismus. Heart ultrasound displayed a left-to-right shunt, two atrial septal defects, enlarging the right heart cavities. Routine cytogenetic analysis revealed a shortened 15 chromosome with an abnormally short ened long (q) arm. Subsequent array analysis disclosed a terminal 9.15 Mb deletions detected in band 15q26.1-q26.3. Five candidate genes associated with 15q26 deletion phenotype were within the deleted region, i.e. IGF1R, NR2F2, MEF2A, MCTP2, and CHD2.Conclusion 15q26 monosomy should be considered when growth retardation is associated with ear anomaly, clinodactyly and/or abnormal toe, heart defect mainly atrioventricular septal defects (AVSDs) and/or aortic arch anomaly (AAA).

scholarly journals Genetic developmental disability diagnosed in adulthood: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Adam Langenfeld ◽  
Lynn Schema ◽  
Judith K. Eckerle
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
Developmental Disability ◽  
Congenital Heart Defect ◽  
Congenital Heart ◽  
Genetic Counselor ◽  
Functional Impairments ◽  
Heart Defect ◽  
American Patient ◽  
History Of

Abstract Background Developmental disabilities (DD) are an umbrella term for conditions associated with functional impairments in physical, learning, language, or behavior areas. Intellectual disability (ID) is a type of developmental disability that results in delays in cognitive or intellectual functioning, such as reasoning, learning, and problem-solving, and adaptive behaviors including social and practical life skills. DD can be due to a variety of factors, ranging from environmental exposures to genetic mutations, and studies suggest that up to 40% of DDs may be caused by genetic issues. Case presentation In this case study, we present an 18-year-old internationally adopted female Chinese American patient with a known history of developmental delay, intellectual disability, strabismus, and a congenital heart defect who had not been tested for genetic causes of her delay prior to presentation. When evaluated with chromosomal microarray, the patient demonstrated a deletion on the short arm of chromosome 5, an area associated with Cri-du-chat syndrome. This chromosomal deletion was a likely explanation for her history of developmental delays, intellectual disability, and congenital heart defect, in addition to her history of institutionalization and the trauma of multiple caregiver transitions in early childhood. The patient was referred for further evaluation by a geneticist and genetic counselor. Conclusions This case highlights that the underlying cause of developmental delay is often multifactorial, and underscores the importance of a full medical evaluation, including genetic testing, for children with intellectual disability. Using this approach, healthcare professionals can identify potential diagnoses and provide more targeted resources to families.

Simultaneous correction of congenital heart defect, atrial fibrillation and coronary artery disease in a 62‑year-old patient

Kardiologiia ◽  
2021 ◽  
Vol 61 (9) ◽  
pp. 73-76
Author(s):  
V. P. Podzolkov ◽  
Mikhail Ramazovich Chiaureli ◽  
Anton Vladimirovich Minaev ◽  
Evgenii Pavlovich Golubev ◽  
Sergei Yurievich Serguladze
Keyword(s):  
Atrial Fibrillation ◽  
Congenital Heart Defect ◽  
Congenital Heart ◽  
Clinical Manifestations ◽  
Adult Life ◽  
Integrated Approach ◽  
Satisfactory Condition ◽  
Heart Defect ◽  
Age Related ◽  
Secondary Pathology

Long-term, natural course of congenital heart defect often results in secondary hemodynamic and functional disorders in adult life. In such cases, first clinical manifestations are generally due to age-related accompanying or secondary pathology rather than with the defect itself. In the presence of concomitant ischemic heart disease (IHD), leading manifestations may be those of angina, which mask manifestations of the heart defect and complicate the diagnosis. Not infrequently in practice, patients refuse surgery in a younger age, which is usually due to their satisfactory condition and an absence of complaints. However, the wait and see tactics is not always justified since over time, hemodynamic disturbances progress, complications of the defect may develop, coronary arteries lesions join with age, and their correction requires an integrated approach. The presented clinical case describes a possibility of successful one-stage surgical correction of an atrial septal defect, tricuspid valve regurgitation, atrial fibrillation, and IHD in a 62-old female patient.

A de novo 1q22q23.1 Interstitial Microdeletion in a Girl with Intellectual Disability and Multiple Congenital Anomalies Including Congenital Heart Defect

2018 ◽  
Vol 154 (1) ◽  
pp. 6-11 ◽  
Author(s):  
Beata Aleksiūnienė ◽  
Egle Preiksaitiene ◽  
Aušra Morkūnienė ◽  
Laima Ambrozaitytė ◽  
Algirdas Utkus
Keyword(s):  
Intellectual Disability ◽  
Congenital Heart Defect ◽  
Congenital Heart ◽  
De Novo ◽  
Molecular Karyotyping ◽  
Pcr Analysis ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Protein Coding ◽  
Heart Defect

Many studies have shown that molecular karyotyping is an effective diagnostic tool in individuals with developmental delay/intellectual disability. We report on a de novo interstitial 1q22q23.1 microdeletion, 1.6 Mb in size, detected in a patient with short stature, microcephaly, hypoplastic corpus callosum, cleft palate, minor facial anomalies, congenital heart defect, camptodactyly of the 4-5th fingers, and intellectual disability. Chromosomal microarray analysis revealed a 1.6-Mb deletion in the 1q22q23.1 region, arr[GRCh37] 1q22q23.1(155630752_157193893)×1. Real-time PCR analysis confirmed its de novo origin. The deleted region encompasses 50 protein-coding genes, including the morbid genes APOA1BP, ARHGEF2, LAMTOR2, LMNA, NTRK1, PRCC, RIT1, SEMA4A, and YY1AP1. Although the unique phenotype observed in our patient can arise from the haploinsufficiency of the dosage-sensitive LMNA gene, the dosage imbalance of other genes implicated in the rearrangement could also contribute to the phenotype. Further studies are required for the delineation of the phenotype associated with this rare chromosomal alteration and elucidation of the critical genes for manifestation of the specific clinical features.

scholarly journals Motor Developmental Delay After Cardiac Surgery in Children With a Critical Congenital Heart Defect: A Systematic Literature Review and Meta-analysis

2021 ◽  
Vol 33 (4) ◽  
pp. 186-197
Author(s):  
Maaike C. A. Sprong ◽  
Willem Broeders ◽  
Janjaap van der Net ◽  
Johannes M. P. J. Breur ◽  
Linda S. de Vries ◽  
...  
Keyword(s):  
Cardiac Surgery ◽  
Literature Review ◽  
Developmental Delay ◽  
Systematic Literature Review ◽  
Congenital Heart Defect ◽  
Congenital Heart ◽  
Meta Analysis ◽  
Heart Defect

scholarly journals 15q26 Deletion in a Patient with Congenital Heart Defect, Growth Restriction and Intellectual Disability: Case Report and Literature Review

2020 ◽  
Author(s):  
Yahya BENBOUCHTA ◽  
Nicole de Leeuw ◽  
Saadia Amasdl ◽  
Aziza Sbiti ◽  
Dominique Smeets ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
De Novo ◽  
Clinical Manifestations ◽  
Failure To Thrive ◽  
Postnatal Growth ◽  
Growth Restriction ◽  
Aortic Arch Anomaly ◽  
Divergent Strabismus ◽  
Heart Defect ◽  
Defect Growth

Abstract Background 15q26 deletion is a relatively rare chromosomal disorder described in only few cases. Patients with this aberration display numerous symptoms particularly pre- and postnatal growth restriction, microcephaly, intellectual disability, dysmorphic gestalt, and various congenital malformations. Case presentation We report on a girl, four years old, of consanguineous parents, with a de novo 15q26 deletion. Clinical manifestations included failure to thrive, microcephaly, dysmorphic facies with broad forehead, hypertelorism, narrowed eyelid slits, protruding columella. The patient also showed skeletal abnormalities, especially clinodactyly of the 5th finger, right foot varus equine, and left club foot. Additionally, she had teething delay and divergent strabismus. Further clinical investigations showed right-to-left atrial shunting, and enlarged right heart. Routine cytogenetic analysis revealed a derivative 15 chromosome with an abnormally short long (q) arm. Subsequent array analysis disclosed a terminal 9.15 Mb deletion detected in band 15q26.1q26.3. Five candidate genes causing the phenotype were within the deleted region, i.e. IGF1R, NR2F2, MEF2A, MCTP2, and CHD2. Conclusion 15q26 monosomy should be considered when growth retardation is associated with ear anomaly, clinodactyly and/or abnormal toe, heart defect mainly atrioventricular septal defects (AVSDs) and/or aortic arch anomaly (AAA).

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