scholarly journals Complete uniparental disomy of chromosome 1

2021 ◽  
Author(s):  
Violet Wallerstein ◽  
Leon Grant ◽  
Robert Wallerstein
Keyword(s):  
Developmental Delay ◽  
Uniparental Disomy ◽  
Chromosome 1 ◽  
Genetic Finding

Complete uniparental disomy of chromosome 1 (UPD1) is an uncommon genetic finding about which a specific phenotype has not yet been established. We present a boy who has complete paternal UPD1 and isolated developmental delay. We suggest that there is no clear phenotype of UPD1.

scholarly journals Prenatal diagnosis of 7 cases with uniparental disomy by utilization of single nucleotide polymorphism array

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Lili Zhou ◽  
Zhaoke Zheng ◽  
Yunzhi Xu ◽  
Xiaoxiao Lv ◽  
Chenyang Xu ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Prenatal Diagnosis ◽  
Molecular Analysis ◽  
Correct Diagnosis ◽  
Snp Array ◽  
Uniparental Disomy ◽  
Chromosome 1 ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Rescue Mechanism

Abstract Background The phenotypes of uniparental disomy (UPD) are variable, which may either have no clinical impact, lead to clinical signs and symptoms. Molecular analysis is essential for making a correct diagnosis. This study involved a retrospective analysis of 4512 prenatal diagnosis samples and explored the molecular characteristics and prenatal phenotypes of UPD using a single nucleotide polymorphism (SNP) array. Results Out of the 4512 samples, a total of seven cases of UPD were detected with an overall frequency of 0.16%. Among the seven cases of UPD, two cases are associated with chromosomal aberrations (2/7), four cases (4/7) had abnormal ultrasonographic findings. One case presented with iso-UPD (14), and two case presented with mixed hetero/iso-UPD (15), which were confirmed by Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) as maternal UPD (15) associated with Prader-Willi syndrome (PWS). Four cases had iso-UPD for chromosome 1, 3, 14, and 16, respectively; this is consistent with the monosomy rescue mechanism. Another three cases presented with mixed hetero/isodisomy were consistent with a trisomy rescue mechanism. Conclusion The prenatal phenotypes of UPD are variable and molecular analysis is essential for making a correct diagnosis and genetic counselling of UPD. The SNP array is a useful genetic test in prenatal diagnosis cases with UPD.

Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1

2017 ◽  
Vol 39 (2) ◽  
pp. 182-183 ◽  
Author(s):  
Lorena Travaglini ◽  
Chiara Aiello ◽  
Viola Alesi ◽  
Sara Loddo ◽  
Antonio Novelli ◽  
...  
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Uniparental Disomy ◽  
Chromosome 1 ◽  
Ceroid Lipofuscinosis ◽  
Recessive Mutations

scholarly journals Maternal Uniparental Disomy of Chromosome 1 with No Apparent Phenotypic Effects

1998 ◽  
Vol 63 (4) ◽  
pp. 1216-1220 ◽  
Author(s):  
L. Leigh Field ◽  
Rose Tobias ◽  
Wendy P. Robinson ◽  
Richard Paisey ◽  
Stephen Bain
Keyword(s):  
Uniparental Disomy ◽  
Chromosome 1 ◽  
Maternal Uniparental Disomy

scholarly journals 1q44 microdeletion syndrome: A new case with potential additional features

2021 ◽  
Vol 16 (1) ◽  
pp. 92-96
Author(s):  
Elena-Silvia SHELBY ◽  
◽  
Tanser HUSEYINOGLU ◽  
Georgeta CARDOS ◽  
Liliana PADURE ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Grey Matter ◽  
Chromosome 1 ◽  
Global Developmental Delay ◽  
Microdeletion Syndrome ◽  
Genetic Syndrome ◽  
Skeletal Involvement ◽  
Craniofacial Dysmorphism ◽  
Prenatal Hydronephrosis ◽  
One Year

1q44 microdeletion syndrome (1q44 monosomy) is a newly described genetic syndrome characterized by the haploinsufficiency of a 6 Mb locus on the long arm of chromosome 1. The main features are global developmental delay, seizures, hypotonia and craniofacial dysmorphism. With a prevalence below one in a million cases, this syndrome is very rare and, hence, often passes undiagnosed. We present the case of a one year old girl admitted to our hospital with global developmental delay and several congenital abnormalities suggesting a plurimalformative syndrome. Microarray analysis detected a 967 kb deletion in the 1q44 region as well as a a 530 kb microduplication in the 14q31.1q31.2 region, the latter having unknown clinical significance as it contains no currently known OMIM genes. The patient’s phenotype was in accordance to 1q44 microdeletion syndrome. Furthermore, after studying the 1q44 microdeletion syndrome cases reported so far in the literature, we have noticed that our patient presented previously undescribed features of this syndrome, namely prenatal hydronephrosis, bifid hallux and grey matter heterotopy. Based on the cerebral, renal and skeletal involvement in 1q44 microdeletion syndrome, we suspect these might be additional, previously unreported features of 1q44 microdeletion syndrome.

scholarly journals UNIPARENTAL DISOMY OF CHROMOSOME 1 CAUSING CONCURRENT CHARCOT-MARIE-TOOTH AND GAUCHER DISEASE TYPE 3

Neurology ◽  
2008 ◽  
Vol 70 (12) ◽  
pp. 976-978 ◽  
Author(s):  
W. S. Benko ◽  
K. S. Hruska ◽  
N. Nagan ◽  
O. Goker-Alpan ◽  
P. S. Hart ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Uniparental Disomy ◽  
Disease Type ◽  
Chromosome 1 ◽  
Charcot Marie Tooth ◽  
Type 3

scholarly journals Array CGH Analysis and Developmental Delay: A Diagnostic Tool for Neurologists

2013 ◽  
Vol 40 (6) ◽  
pp. 777-782 ◽  
Author(s):  
F. Cameron ◽  
J. Xu ◽  
J. Jung ◽  
C. Prasad
Keyword(s):  
Developmental Delay ◽  
Uniparental Disomy ◽  
Chromosome Analysis ◽  
Deletion Syndrome ◽  
Global Developmental Delay ◽  
Unknown Etiology ◽  
Comparative Genomic ◽  
Illustrative Case ◽  
Genetic Syndromes ◽  
Copy Number Changes

Developmental delay occurs in 1–3% of the population, with unknown etiology in approximately 50% of cases. Initial genetic work up for developmental delay previously included chromosome analysis and subtelomeric FISH (fluorescent in situ hybridization). Array Comparative Genomic Hybridization (aCGH) has emerged as a tool to detect genetic copy number changes and uniparental disomy and is the most sensitive test in providing etiological diagnosis in developmental delay. aCGH allows for the provision of prognosis and recurrence risks, improves access to resources, helps limit further investigations and may alter medical management in many cases. aCGH has led to the delineation of novel genetic syndromes associated with developmental delay. An illustrative case of a 31-year-old man with long standing global developmental delay and recently diagnosed 4q21 deletion syndrome with a deletion of 20.8 Mb genomic interval is provided. aCGH is now recommended as a first line test in children and adults with undiagnosed developmental delay and congenital anomalies.

Obesity and developmental delay in a patient with uniparental disomy of chromosome 2

2016 ◽  
Vol 40 (12) ◽  
pp. 1935-1941 ◽  
Author(s):  
T Yu ◽  
J Li ◽  
N Li ◽  
R Liu ◽  
Y Ding ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Uniparental Disomy ◽  
Chromosome 2

scholarly journals Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome

Genes ◽  
2021 ◽  
Vol 12 (2) ◽  
pp. 172
Author(s):  
Sanaa Choufani ◽  
Jung Min Ko ◽  
Youliang Lou ◽  
Cheryl Shuman ◽  
Leona Fishman ◽  
...  
Keyword(s):  
Snp Array ◽  
Uniparental Disomy ◽  
Chromosome 1 ◽  
Single Individual ◽  
Imprinting Disorders ◽  
Chromosome 20 ◽  
First Case ◽  
Entire Chromosome ◽  
Paternal Uniparental Disomy ◽  
Chromosome 11P15.5

Epigenetic alterations at imprinted genes on different chromosomes have been linked to several imprinting disorders (IDs) such as Beckwith-Wiedemann syndrome (BWS) and pseudohypoparathyroidism type 1b (PHP1b). Here, we present a male patient with these two distinct IDs caused by two independent mechanisms-loss of methylation (LOM) at chromosome 11p15.5 associated with multi-locus imprinting disturbances (MLID and paternal uniparental disomy of chromosome 20 (patUPD20). A clinical diagnosis of BWS was made based on the clinical features of macrosomia, macroglossia, and umbilical hernia. The diagnosis of PHP1b was supported by the presence of reduced growth velocity and mild learning disability as well as hypocalcemia and hyperphosphatemia at 14 years of age. Molecular analyses, including genome-wide DNA methylation (Illumina 450k array), bisulfite pyrosequencing, single nucleotide polymorphism (SNP) array and microsatellite analysis, demonstrated loss of methylation (LOM) at IC2 on chromosome 11p15.5, and paternal isodisomy of the entire chromosome 20. In addition, imprinting disturbances were noted at the differentially methylated regions (DMRs) associated with DIRAS3 on chromosome 1 and PLAGL1 on chromosome 6. This is the first case report of PHP1b due to patUPD20 diagnosed in a BWS patient with LOM at IC2 demonstrating etiologic heterogeneity for multiple imprinting disorders in a single individual.

scholarly journals Copy number variation analysis in 189 Romanian patients with global developmental delay/intellectual disability

2021 ◽  
Author(s):  
Diana Miclea ◽  
Sergiu Osan ◽  
Simona Bucerzan ◽  
Delia Stefan ◽  
Radu Popp ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
Copy Number ◽  
Clinical Phenotype ◽  
Snp Array ◽  
Uniparental Disomy ◽  
Global Developmental Delay ◽  
Chromosome 15 ◽  
Metabolic Evaluation ◽  
Pathogenic Cnvs

Abstract Developmental delay and intellectual disability represent a common pathology in general population, involving about 3% of the pediatric age population and more and more often the genetic etiology is proven. The aim of this study was to determine the clinically relevant copy number variants in patients diagnosed with global developmental delay/intellectual disability in our population, using the technology SNP array. Material and methods. We analyzed 189 patients diagnosed with GDD//ID, presented in Clinical Emergency Hospital for Children Cluj-Napoca. The patients were completely clinically investigated, including dysmorphic evaluation, internal malformation evaluation, psychiatric and neuropsychological examinations, metabolic evaluation, standard karyotyping. Genomic analysis was done using SNP array technique. Results. 50/189 patients (26.45%) presented pathogenic CNVs and uniparental disomy (32/189 patients, 16.93%) or VOUS (variants of unknown significance) (18/189 patients, 9.52%). Two patients presented uniparental disomy of chromosome 15, one with clinical phenotype of Prader-Willi syndrome and the other with clinical phenotype with Angelman syndrome. The recurrent pathogenic CNVs were seen in 18/32 patients (56%) with pathogenic findings (CNVs or uniparental disomy). Conclusions. These data encouraged to continue using a microarray genetic testing as useful test for the diagnostic performance together with other new tools as exome or genome sequencing for a global genome view in diseases which have not a specific phenotype, such as intellectual disability.

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