scholarly journals A very rare partial trisomy syndrome: De novo duplication of 16q12.1q23.3 in a Turkish girl with developmental delay and facial dysmorphic features

2020 ◽  
Vol 23 (1) ◽  
pp. 103-108
Author(s):  
A Türkyılmaz ◽  
O Yaralı
Keyword(s):  
Developmental Delay ◽  
De Novo ◽  
Chromosomal Abnormalities ◽  
Chromosomal Translocation ◽  
Partial Trisomy ◽  
Clinical Findings ◽  
Comparative Genomic ◽  
Dysmorphic Features ◽  
Autosomal Trisomy ◽  
Metopic Suture

AbstractTrisomy 16 is the most common type of autosomal trisomy associated with spontaneous abortion and is incompatible with life. Upon examining previously reported cases of partial chromosome 16q duplication, it was noted that the majority of cases had complex chromosomal abnormalities due to parental balanced chromosomal translocation carriage. The clinical presentation of very rare pure partial trisomy 16q cases was associated with congenital anomalies, facial dysmorphic findings and intellectual disability. In this study, we evaluated the physical characteristics and genetic data of an 8-month-old girl with developmental delay and facial dysmorphic features. Dysmorphic features including prominent metopic suture, synophrys, asymmetric head shape, triangular and asymmetric face, telecanthus, epicanthal folds, down-slanting palpebral fissures, microphthalmia of the left eye, anteverted nares, smooth and tented philtrum, microretrognathia, low-set posteriorly rotated ears, auricular pits, high-arched palate, thin upper lip and hypotonia were recorded. Her karyotype was 46,XX,add(16)(q24). To identify the extension of the duplicated section, array comparative genomic hybridization (aCGH) analysis was performed, which showed a de novo 29.8 Mb duplication [arr[hgl9] 16q12.1q23.3(52459169-82285105) x 3], interpreted to be pathogenic. We present this case report to clarify the clinical findings of a rare chromosomal anomaly, discuss the genes that may be related to the phenotype and advance the literature in terms of knowledge regarding genotypephenotype correlation.

scholarly journals Deletion of 15q26.1 region with absence epilepsy respond to valproic acid: A Literature Overview and A Case Report from Qatar

2021 ◽  
pp. 210
Author(s):  
Keyword(s):  
Developmental Disorders ◽  
De Novo ◽  
Chromosomal Abnormalities ◽  
Intractable Epilepsy ◽  
Absence Epilepsy ◽  
Growth Delay ◽  
Comparative Genomic ◽  
Potential Candidate ◽  
Speech Delay ◽  
Dysmorphic Features

Chromosomal abnormalities involving deletions and duplications are known to cause severe developmental disorders, including mental retardation, dysmorphism, and seizures, in children. As the technique of array-based comparative genomic hybridization is being applied more frequently in the diagnostic evaluation of children with developmental disorders; novel pathologic chromosomal abnormalities are being identified in relation to various type of epilepsies in childhood. We report the case of a 4-year-old girl with a history of speech delay and communication disorder, mild dysmorphic features, and absence epilepsy with a de novo microdeletion 15q26.1. A much larger (5 Mb) but overlapping microdeletion has been previously reported in similar several cases with similar phenotype including intractable myoclonic and absence epilepsy, growth delay, and dysmorphic features. This leads us to propose that a potential candidate gene or genes within the deleted region involved in the pathogenesis of some forms of generalized intractable epilepsy, previously considered idiopathic should consider genetic study for childhood epilepsies especially if it was associated with underlying developmental delay in any particular aspect as speech delay in our case.

scholarly journals Jacobsen syndrome and neonatal bleeding: report on two unrelated patients

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Gregorio Serra ◽  
Luigi Memo ◽  
Vincenzo Antona ◽  
Giovanni Corsello ◽  
Valentina Favero ◽  
...  
Keyword(s):  
Developmental Delay ◽  
De Novo ◽  
Comparative Genomic ◽  
Fish Analysis ◽  
Variable Degree ◽  
Jacobsen Syndrome ◽  
Contiguous Gene ◽  
Clinical Consequences ◽  
11Q Deletion

Abstract Introduction In 1973, Petrea Jacobsen described the first patient showing dysmorphic features, developmental delay and congenital heart disease (atrial and ventricular septal defect) associated to a 11q deletion, inherited from the father. Since then, more than 200 patients have been reported, and the chromosomal critical region responsible for this contiguous gene disorder has been identified. Patients’ presentation We report on two unrelated newborns observed in Italy affected by Jacobsen syndrome (JBS, also known as 11q23 deletion). Both patients presented prenatal and postnatal bleeding, growth and developmental delay, craniofacial dysmorphisms, multiple congenital anomalies, and pancytopenia of variable degree. Array comparative genomic hybridization (aCGH) identified a terminal deletion at 11q24.1-q25 of 12.5 Mb and 11 Mb, in Patient 1 and 2, respectively. Fluorescent in situ hybridization (FISH) analysis of the parents documented a de novo origin of the deletion for Patient 1; parents of Patient 2 refused further genetic investigations. Conclusions Present newborns show the full phenotype of JBS including thrombocytopenia, according to their wide 11q deletion size. Bleeding was particularly severe in one of them, leading to a cerebral hemorrhage. Our report highlights the relevance of early diagnosis, genetic counselling and careful management and follow-up of JBS patients, which may avoid severe clinical consequences and lower the mortality risk. It may provide further insights and a better characterization of JBS, suggesting new elements of the genotype-phenotype correlations.

scholarly journals Distal Partial Trisomy 15q26 and Partial Monosomy 16p13.3 in a 36-Year-Old Male with Clinical Features of Both Chromosomal Abnormalities

2015 ◽  
Vol 145 (1) ◽  
pp. 29-34 ◽  
Author(s):  
Devin M. Cox ◽  
Merlin G. Butler
Keyword(s):  
Intellectual Disability ◽  
Chromosomal Abnormalities ◽  
Receptor Gene ◽  
Partial Trisomy ◽  
Chromosome Translocation ◽  
Fish Analysis ◽  
Partial Monosomy ◽  
Chronic Anemia ◽  
Dysmorphic Features ◽  
History Of

We report a 36-year-old Caucasian male identified with distal partial trisomy 15q and partial monosomy 16p from an unbalanced chromosome translocation detected by microarray and FISH analysis. He had a history of developmental delay and intellectual disability, chronic anemia, tall and slender stature, thoracic scoliosis and lumbar lordosis, and dysmorphic features. The distal partial trisomy 15q included the insulin-like growth factor 1 receptor gene involved with growth, while genes in the distal partial monosomy 16p region are involved with alpha hemoglobin production, intellectual disability, dysmorphic features, and acromegaly. The chromosome derivative found in our patient contains genes known to play a role in his phenotype.

Developmental delay and dysmorphic features in a girl with a de novo 5.4 Mb deletion of 13q12.11‐q12.13

2019 ◽  
Vol 60 (2) ◽  
pp. 73-74
Author(s):  
Makiko Tominaga ◽  
Toshiyuki Saito ◽  
Mitsuo Masuno ◽  
You Umeda ◽  
Kenji Kurosawa
Keyword(s):  
Developmental Delay ◽  
De Novo ◽  
Dysmorphic Features

Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features

2018 ◽  
Vol 176 (12) ◽  
pp. 2548-2553 ◽  
Author(s):  
Caleb P. Bupp ◽  
Chad R. Schultz ◽  
Katie L. Uhl ◽  
Surender Rajasekaran ◽  
André S. Bachmann
Keyword(s):  
Developmental Delay ◽  
De Novo ◽  
Pathogenic Variant ◽  
Dysmorphic Features

Molecular Delineation of Partial Trisomy 14q and Partial Trisomy 12p in a Patient with Dysmorphic Features, Heart Defect and Developmental Delay

2015 ◽  
Vol 145 (1) ◽  
pp. 14-18 ◽  
Author(s):  
Divya Bose ◽  
Venkatesh Krishnamurthy ◽  
K.S. Venkatesh ◽  
Mohamed Aiyaz ◽  
Mitesh Shetty ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Congenital Heart ◽  
Array Cgh ◽  
Partial Trisomy ◽  
Oligonucleotide Array ◽  
Global Developmental Delay ◽  
Potential Candidate ◽  
Balanced Translocation ◽  
Dysmorphic Features ◽  
Novel Association

This study describes a molecular analysis of partial trisomy 14q and partial trisomy 12p in a 5-year-old male child presenting with dysmorphic features, congenital heart disease and global developmental delay. Chromosomal analysis of the patient with GTG bands revealed a 47,XY,+der(14)t(12;14)(p13;q22)mat karyotype; the mother's karyotype was 46,XX,t(12;14)(p13;q22). Further, oligonucleotide array- CGH studies revealed an amplification of 32.3 Mb in the 14q11.1q22.1 region, substantiating partial trisomy 14q and additionally displaying an amplification of ∼1 Mb in the 12p13.3pter region for partial trisomy 12p. This is the first study to demonstrate a novel association of partial trisomies of 14q and 12p due to a 3:1 segregation of a maternal balanced translocation involving chromosomes 12 and 14. Gene ontology studies indicated 5 potential candidate genes in the amplified regions for the observed congenital anomalies.

scholarly journals Clinical Manifestations of Partial Trisomy 4p

2010 ◽  
Vol 13 (2) ◽  
pp. 61-63
Author(s):  
O Demirhan ◽  
F Özgünen ◽  
D Taştemir
Keyword(s):  
De Novo ◽  
Ultrasound Examination ◽  
Clinical Manifestations ◽  
Partial Trisomy ◽  
Defect Analysis ◽  
Chromosome 4 ◽  
Female Fetus ◽  
Dysmorphic Features ◽  
Severe Growth ◽  
Lung And Kidney

Clinical Manifestations of Partial Trisomy 4pWe made the diagnosis prenatally from cytogenetic analysis of amniocytes cultured following amniocentesis performed at 20 weeks' gestation on a woman in whom ultrasound examination of the female fetus showed severe growth retardation, lung and kidney hypoplasia, and a congenital heart defect. Analysis revealed a de novo trisomy of the terminal short arm of chromosome 4 (4p16.1-pter). The parents opted to terminate the pregnancy. Fetopathological examination showed dysmorphic features and other abnormalities consistent with clinical manifestations of partial trisomy 4p.

scholarly journals A novel de novo paracentric inversion [inv(20)(q13.1q13.3)] accompanied by an 11q14.3-q21 microdeletion in a pediatric patient with an intellectual disability

2018 ◽  
Vol 21 (2) ◽  
pp. 63-67
Author(s):  
S Zachaki ◽  
E Kouvidi ◽  
A Mitrakos ◽  
L Lazaros ◽  
A Pantou ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Comparative Genomic Hybridization ◽  
Array Comparative Genomic Hybridization ◽  
De Novo ◽  
Chromosomal Abnormalities ◽  
Mendelian Inheritance ◽  
Paracentric Inversion ◽  
Comparative Genomic ◽  
Published Data ◽  
Genomic Hybridization

Abstract A novel de novo paracentric inversion of the long arm of chromosome 20 [inv(20)(q13.1q13.3)], detected by conventional karyotyping in a 14-year-old boy with mental retardation is described. Further investigation by array comparative genomic hybridization (aCGH) revealed that the 20q inversion was not accompanied by microdeletions/microduplications containing disease-associated genes near or at the breakpoints. Two deletions at chromosomal regions 11q14.3q21 and 20q12 of 4.5 and 1.97 Mb size, respectively, containing important online Mendelian inheritance in man (OMIM) genes, were detected. The 4.5Mb 11q14.3q21 microdeletion was contained within a region that is involved, in most of the reported cases, with the interstitial 11q deletion and may be related to the mental retardation and developmental delay present in the patient. On the other hand, the published data about the 20q12 microdeletion are very few and it is not possible to correlate this finding with our patient’s phenotype. This case report contributes to the description of a new chromosomal entity, not previously reported, and is therefore important, especially in prenatal diagnosis and management of patients. Array comparative genomic hybridization has proven a useful technique for detecting submicroscopic rearrangements and should be offered prenatally, especially in cases of de novo karyotypically balanced chromosomal inversions or translocations in order to unveil other unbalanced chromosomal abnormalities such as deletions and amplifications.

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