De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome

2012 ◽  
Vol 158A (10) ◽  
pp. 2557-2563 ◽  
Author(s):  
Lindsay C. Burrage ◽  
Richard E. Person ◽  
Angela Flores ◽  
Maria Theresa M. Villanos ◽  
Weimin Bi ◽  
...  
Keyword(s):  
De Novo ◽  
Prader Willi Syndrome ◽  
Interstitial Duplication

A de novo unbalanced reciprocal translocation identified as paternal in origin in the Prader-Willi syndrome

1991 ◽  
Vol 86 (5) ◽  
Author(s):  
A. Smith ◽  
R. Lindeman ◽  
F. Volpato ◽  
A. Kearney ◽  
S. White ◽  
...  
Keyword(s):  
Reciprocal Translocation ◽  
De Novo ◽  
Prader Willi Syndrome

De novo inverted interstitial duplication 8q22.1‐q21.1 in a boy with moderate learning disabilities, mild autistic and dysmorphic features

2009 ◽  
Vol 3 (2) ◽  
pp. 48-52
Author(s):  
Gerasimos Kolaitis ◽  
Katerina Papanikolaou ◽  
Elena Paliokosta ◽  
John Tsiantis ◽  
Yolanda Gyftodimou ◽  
...  
Keyword(s):  
Learning Disabilities ◽  
De Novo ◽  
Dysmorphic Features ◽  
Interstitial Duplication

A patient with a de novo t (6;9) and an interstitial duplication of (9)(q21.2q22.1)

1999 ◽  
Vol 8 (3) ◽  
pp. 211???214 ◽  
Author(s):  
Martina F. Mohrschladt ◽  
Emilia K. Bijlsma ◽  
Sigrid Sluijter ◽  
Rene F.M. De Coo ◽  
Jan M.N. Hoovers ◽  
...  
Keyword(s):  
De Novo ◽  
Interstitial Duplication

De novo interstitial duplication 4(q28.1q35) associated with choanal atresia

2004 ◽  
Vol 40 (7) ◽  
pp. 401-403 ◽  
Author(s):  
S Lin ◽  
EPE Kirk ◽  
F McKenzie ◽  
C Francis ◽  
C Shalhoub ◽  
...  
Keyword(s):  
De Novo ◽  
Choanal Atresia ◽  
Interstitial Duplication

scholarly journals Clinical Observations and Treatment Approaches for Scoliosis in Prader–Willi Syndrome

Genes ◽  
2020 ◽  
Vol 11 (3) ◽  
pp. 260
Author(s):  
Harold J.P. van Bosse ◽  
Merlin G. Butler
Keyword(s):  
De Novo ◽  
Skeletal Maturity ◽  
Age Distribution ◽  
Clear Understanding ◽  
Prader Willi Syndrome ◽  
Therapeutic Approaches ◽  
Clinical Observations ◽  
Radiographic Screening ◽  
Orthopedic Care ◽  
Surgical Choices

Prader–Willi syndrome (PWS) is recognized as the first example of genomic imprinting, generally due to a de novo paternal 15q11-q13 deletion. PWS is considered the most common genetic cause of marked obesity in humans. Scoliosis, kyphosis, and kyphoscoliosis are commonly seen in children and adolescents with PWS with a prevalence of spinal deformities cited between 15% to 86%. Childhood risk is 70% or higher, until skeletal maturity, with a bimodal age distribution with one peak before 4 years of age and the other nearing adolescence. As few reports are available on treating scoliosis in PWS, we described clinical observations, risk factors, therapeutic approaches and opinions regarding orthopedic care based on 20 years of clinical experience. Treatments include diligent radiographic screening, starting once a child can sit independently, ongoing physical therapy, and options for spine casting, bracing and surgery, depending on the size of the curve, and the child’s age. Similarly, there are different surgical choices including a spinal fusion at or near skeletal maturity, versus a construct that allows continued growth while controlling the curve for younger patients. A clear understanding of the risks involved in surgically treating children with PWS is important and will be discussed.

Expanded Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(14;15): Report and Review of the Literature

2019 ◽  
Vol 159 (3) ◽  
pp. 109-118
Author(s):  
Anastasios Xefteris ◽  
Eleni Sekerli ◽  
Antonia Arampatzi ◽  
Sofia Charisiou ◽  
Eirini Oikonomidou ◽  
...  
Keyword(s):  
De Novo ◽  
Heart Defects ◽  
Prader Willi Syndrome ◽  
Review Of The Literature ◽  
Ear Malformations ◽  
Combination Of Methods ◽  
Atypical Feature ◽  
Severe Retardation ◽  
De Novo Translocation ◽  
Tendon Reflexes

In the present study, we report a case of a female infant with a de novo unbalanced t(14;15) translocation resulting in a 14-Mb deletion of the 15q11.1q14 region. The deletion includes the 15q11.2q13 Prader-Willi syndrome (PWS) critical region, while no known deleted genes are found in the 14qter region. According to literature review, patients with similar or larger deletions in the 15q region exhibit an expanded phenotype of PWS with case-specific atypical features such as severe retardation, absence of speech, microcephaly, retrognathia, bifid uvula, ear malformations, and heart defects in addition to typical features of PWS. Our proband exhibited increased deep tendon reflexes, an atypical feature which is not reported in the reviewed literature. The severity of the phenotype is not directly associated with the size of the deletion; however, using a combination of methods, the identification of breakpoints and the deleted genes can be helpful for the prognostication in patients with atypical PWS deletions.

A case of an atypically large proximal 15q deletion as cause for Prader–Willi syndrome arising from a de novo unbalanced translocation

2013 ◽  
Vol 56 (9) ◽  
pp. 510-514 ◽  
Author(s):  
Scott E. Hickey ◽  
Devon Lamb Thrush ◽  
Lauren Walters-Sen ◽  
Shalini C. Reshmi ◽  
Caroline Astbury ◽  
...  
Keyword(s):  
De Novo ◽  
Prader Willi Syndrome ◽  
Unbalanced Translocation

scholarly journals Whole genome analysis of an extended pedigree with Prader–Willi Syndrome, hereditary hemochromatosis, and dysautonomia-like symptoms

2015 ◽  
Author(s):  
Han Fang ◽  
Yiyang Wu ◽  
Margaret Yoon ◽  
Laura T. Jiménez-Barrón ◽  
Jason A. O'Rawe ◽  
...  
Keyword(s):  
De Novo ◽  
Chromosome Region ◽  
Hereditary Hemochromatosis ◽  
Copy Number Variations ◽  
Prader Willi Syndrome ◽  
Whole Genome ◽  
Whole Genome Analysis ◽  
Phenotypic Data ◽  
Human Phenotype ◽  
Congenital Insensitivity

This report includes the discovery and analysis of a pedigree with Prader–Willi Syndrome (PWS), hereditary hemochromatosis (HH), and dysautonomia-like symptoms. Nine members of the family participated in whole genome sequencing (WGS), which enabled a wide scope of variant calling from single-nucleotide polymorphisms to copy number variations. First, a 5.5 Mb de novo deletion is identified in the chromosome region 15q11.2 to 15q13.1 in the boy with PWS. Second, a female invididual with HH is homozygous for the p.C282Y variant in HFE, a mutation known to be associated with HH. Her brother is homozygous for the same variant, although he has yet to be clinically diagnosed with HH. Third, none of the people with dysautonomia-like symptoms carry any reported or novel rare variants in IKBKAP that are implicated in familial dysautonomia (FD - HSAN III). Although two people with dysautonomia-like symptoms carry two heterozygous variants in NTRK1, a gene that has been shown to contribute to HSAN IV (congenital insensitivity to pain with anhidrosis, a disease that closely resembles FD), this variant is not present in the third proband. Fourth, WGS revealed pharmacogenetic variants influencing the metabolism of warfarin and simvastatin, which are being routinely prescribed to the proband. Finally, reports of the phenotypes were standardized with the Human Phenotype Ontology annotation, which may facilitate the search for other families with similar phenotypes. Due to the extreme heterogeneity and insufficient knowledge of human diseases, it is of crucial importance that both phenotypic data and genomic data are standardized and shared.

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