scholarly journals Deletion of 7q33-q35 in a Patient with Intellectual Disability and Dysmorphic Features: Further Characterization of 7q Interstitial Deletion Syndrome

2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
Kristen Dilzell ◽  
Diana Darcy ◽  
John Sum ◽  
Robert Wallerstein
Keyword(s):  
Intellectual Disability ◽  
Interstitial Deletion ◽  
Deletion Syndrome ◽  
Comparative Genomic ◽  
Facial Features ◽  
Chromosome Deletion ◽  
Recent Onset ◽  
Dysmorphic Features ◽  
7Q Deletion

This case report concerns a 16-year-old girl with a 9.92 Mb, heterozygous interstitial chromosome deletion at 7q33-q35, identified using array comparative genomic hybridization. The patient has dysmorphic facial features, intellectual disability, recurrent infections, self-injurious behavior, obesity, and recent onset of hemihypertrophy. This patient has overlapping features with previously reported individuals who have similar deletions spanning the 7q32-q36 region. It has been difficult to describe an interstitial 7q deletion syndrome due to variations in the sizes and regions in the few patients reported in the literature. This case contributes to the further characterization of an interstitial distal 7q deletion syndrome.

scholarly journals Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome

2021 ◽  
Author(s):  
Aleksandra Jakubiak ◽  
Krzysztof Szczałuba ◽  
Magdalena Badura-Stronka ◽  
Anna Kutkowska-Kaźmierczak ◽  
Anna Jakubiuk-Tomaszuk ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Congenital Anomalies ◽  
Chromosomal Region ◽  
Neurodevelopmental Disorder ◽  
Hirschsprung Disease ◽  
Psychomotor Retardation ◽  
Facial Features ◽  
Dysmorphic Features ◽  
Pathogenic Variants ◽  
Intragenic Deletions

AbstractMowat-Wilson syndrome is a rare neurodevelopmental disorder caused by pathogenic variants in the ZEB2 gene, intragenic deletions of the ZEB2 gene, and microdeletions in the critical chromosomal region 2q22-23, where the ZEB2 gene is located. Mowat-Wilson syndrome is characterized by typical facial features that change with the age, severe developmental delay with intellectual disability, and multiple congenital abnormalities. The authors describe the clinical and genetic aspects of 28th patients with Mowat-Wilson syndrome diagnosed in Poland. Characteristic dysmorphic features, psychomotor retardation, intellectual disability, and congenital anomalies were present in all cases. The incidence of most common congenital anomalies (heart defect, Hirschsprung disease, brain defects) was similar to presented in literature. Epilepsy was less common compared to previously reported cases. Although the spectrum of disorders in patients with Mowat-Wilson syndrome is wide, knowledge of characteristic dysmorphic features awareness of accompanying abnormalities, especially intellectual disability, improves detection of the syndrome.

The First Case Report of Kabuki Syndrome from the National Iranian Registry of Primary Immunodeficiencies

2021 ◽  
Vol 21 ◽  
Author(s):  
Molood Safarirad ◽  
Ali Abbaszadeh Ganji ◽  
Saba Fekrvand ◽  
Reza Yazdani ◽  
Ahmad Vosughi Motlagh ◽  
...  
Keyword(s):  
Congenital Anomaly ◽  
Intellectual Disability ◽  
Definitive Diagnosis ◽  
Facial Features ◽  
Kabuki Syndrome ◽  
Rare Congenital Anomaly ◽  
Dysmorphic Features ◽  
Pathogenic Variants ◽  
First Case ◽  
Whole Exome

: Kabuki syndrome is a rare congenital anomaly/mental retardation syndrome characterized by intellectual disability, developmental delay, short stature, facial dysmorphic features including ectropion of the lateral third of the lower eyelids and long palpebral fissures, and prominent finger pads. Pathogenic variants of KMT2D (MLL2) and KDM6A are found to be the major causes of Kabuki syndrome. Here, we report the first Iranian case with Kabuki syndrome with an IQ of 79, two episodes of viral pneumonia and distinctive facial features, prominent ears and persistent fetal fingertip pads. These characteristics raised our suspicion for performing whole-exome sequencing (WES), which revealed 2 heterozygous pathogenic missense variants in the KMT2D gene: c.C10024T in exon 34 leading to p.R3342C and c.G15005A in exon 48 leading to p.R5002Q. Hence, the definitive diagnosis of Kabuki syndrome was made based on molecular findings along with the intellectual disability and characteristic facial features.

scholarly journals Subtelomeric Rearrangements: Presentation of 21 Probands with Emphasis on Familial Cases

2019 ◽  
Vol 32 (7-8) ◽  
pp. 529
Author(s):  
Ana Rita Soares ◽  
Gabriela Soares ◽  
Manuela Mota-Freitas ◽  
Natália Oliva-Teles ◽  
Ana Maria Fortuna
Keyword(s):  
Intellectual Disability ◽  
Comparative Genomic Hybridization ◽  
Chromosomal Abnormality ◽  
Array Comparative Genomic Hybridization ◽  
De Novo ◽  
Family Members ◽  
Comparative Genomic ◽  
Genomic Hybridization ◽  
Subtelomeric Rearrangements

Introduction: Intellectual disability affects 2% – 3% of the general population, with a chromosomal abnormality being found in 4% – 28% of these patients and a cryptic subtelomeric abnormality in 3% – 16%. In most cases, these subtelomeric rearrangements are submicroscopic, requiring techniques other than conventional karyotype for detection. They may be de novo or inherited from an affected parent or from a healthy carrier of a balanced chromosomal abnormality. The aim of this study was to characterize patients from our medical genetics center, in whom both a deletion and duplication in subtelomeric regions were found.Material and Methods: Clinical and cytogenetic characterization of 21 probands followed at our center, from 1998 until 2017, with subtelomeric rearrangements.Results: There were 21 probands from 19 families presenting with intellectual disability and facial dysmorphisms. Seven had behavior changes, five had epilepsy and 14 presented with some other sign or symptom. Four had chromosomal abnormalities detected by conventional karyotype and four were diagnosed by array-comparative genomic hybridization. In four cases, parental studies were not possible. The online mendelian inheritance in man classification was provided whenever any of the phenotypes (deletion or duplication syndrome) was dominant.Discussion: Patients and relevant family members were clinically and cytogenetically characterized. Although rare, subtelomeric changes are a substantial cause of syndromic intellectual disability with important familial repercussions. It is essential to remember that a normal array-comparative genomic hybridization result does not exclude a balanced rearrangement in the parents.Conclusion: Parental genetic studies are essential not only for a complete characterization of the rearrangement, but also for accurate genetic counselling and screening of family members at risk for recurrence.

scholarly journals An Interstitial Deletion at 7q33-36.1 in a Patient with Intellectual Disability, Significant Language Delay, and Severe Microcephaly

2016 ◽  
Vol 2016 ◽  
pp. 1-5 ◽  
Author(s):  
Trupti Kale ◽  
Melissa Philip
Keyword(s):  
Intellectual Disability ◽  
Interstitial Deletion ◽  
Language Delay ◽  
Facial Features ◽  
Rare Entity ◽  
Review Of The Literature ◽  
Phenotypic Profile ◽  
Concise Review ◽  
Phenotypic Variations ◽  
Primary Focus

Interstitial deletions of the distal 7q region are considered a rare entity. In this report, we describe a seven-year-old male with a heterozygous interstitial deletion at 7q33-36.1 with characteristic dysmorphic facial features, intellectual disability, severe microcephaly, and significant language delay. The primary focus of our report is to compare our case with the few others in the literature describing interstitial deletions at the long arm of chromosome 7. Based on the various breakpoints in prior studies, a number of phenotypic variations have been identified that are unique to each of the reports. However, there are also a number of similarities among these cases as well. We hope to provide a concise review of the literature and genes involved within our deletion sequence in the hope that it will contribute to creating a phenotypic profile for this patient population.

scholarly journals A Rare Co-occurrence of Intestinal Malrotation and Hirschsprung's Disease in a Neonate with 13q21.31q33.1 Interstitial Deletion Including the EDNRB Gene

2019 ◽  
Vol 08 (03) ◽  
pp. 142-146
Author(s):  
Trassanee Chatmethakul ◽  
Rozaleen Phaltas ◽  
Gwen Minzes ◽  
Jose Martinez ◽  
Ramachandra Bhat
Keyword(s):  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Interstitial Deletion ◽  
Intestinal Malrotation ◽  
Deletion Syndrome ◽  
Gastrointestinal Complications ◽  
Dysmorphic Features ◽  
Rare Association ◽  
Ednrb Gene ◽  
Male Neonate

AbstractWe report a rare co-occurrence of intestinal malrotation and Hirschsprung's disease (HSCR) in a male neonate with a large 38.8 Mb interstitial deletion of chromosome 13 extending from q21.31 to q33.1 including the EDNRB gene, who presented with craniofacial dysmorphic features and central nervous system malformations. The loss of EDNRB gene in addition to bilateral hearing loss and HSCR suggested an additional diagnosis of Waardenburg–Shah's syndrome. This case highlights the fact that prior knowledge of this rare association in infants with 13q deletion syndrome would enable early diagnosis and prompt interventions to prevent gastrointestinal complications.

Interstitial deletion of (17)(p11.2p11.2): Report of six additional patients with a new chromosome deletion syndrome

1986 ◽  
Vol 24 (3) ◽  
pp. 421-432 ◽  
Author(s):  
Robert F. Stratton ◽  
William B. Dobyns ◽  
Frank Greenberg ◽  
Jeanne B. DeSana ◽  
Charleen Moore ◽  
...  
Keyword(s):  
Interstitial Deletion ◽  
Deletion Syndrome ◽  
Chromosome Deletion

scholarly journals Prenatal Diagnosis of Combined Maternal 4q Interstitial Deletion and Paternal 15q Microduplication

Genes ◽  
2021 ◽  
Vol 12 (10) ◽  
pp. 1626
Author(s):  
Francesco Libotte ◽  
Marco Fabiani ◽  
Katia Margiotti ◽  
Antonella Viola ◽  
Alvaro Mesoraca ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Clinical Manifestations ◽  
Interstitial Deletion ◽  
Deletion Syndrome ◽  
Comparative Genomic ◽  
Chromosome 4 ◽  
Female Fetus ◽  
Phenotypic Spectrum ◽  
Unusual Variant ◽  
Ultrasound Evidence

The 4q deletion syndrome is a well-known rare genetic condition caused by partial, terminal, or interstitial deletion in the long arm (q) of chromosome 4. The phenotype of this syndrome shows a broad spectrum of clinical manifestations due to the great variability in the size and location of the deletion. In the literature, the mostly terminal deletions of chromosome 4q and the relative phenotypes are described, while the interstitial deletions of the long arm of chromosome 4 are rarely cited. Here, we report on a female fetus presenting no abnormal ultrasound evidence but with multiple chromosome aberrations. Comparative genomic hybridization (aCGH) revealed an interstitial 10.09 Mb deletion at the chromosome at the region of 4q28, arr[hg19] 4q28.1q28.3 (124068262_134158728)x1 combined with a 386.81 Kb microduplication at chromosome 15q11.1, arr[hg19] 15.11 (20249932_20636742)x3. At birth, and after 11 months, the baby was confirmed healthy and normal. The identification of this case allows for a deeper understanding of 4q syndrome and provides an explanation for the wide genetic/phenotypic spectrum of this pathology. This report can provide a reference for prenatal diagnosis and genetic counseling in patients who have similar cytogenetic abnormalities, and underlines the importance of reporting unusual variant chromosomes for diagnostic genetic purposes.

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