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1p36 Deletion Syndrome - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.
Battaglia A. Battaglia A. 2008 Feb 1 [updated 2013 Jun 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2008 Feb 1 [updated 2013 Jun 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301370 Free Books & Documents. Review.
Surveillance: Systematic follow up for adjustment of rehabilitation/education and medical treatment as needs change over time. GENETIC COUNSELING: 1p36 deletion syndrome is caused by deletion of the 1p36 chromosome region by one of several genetic mechanisms. …
Surveillance: Systematic follow up for adjustment of rehabilitation/education and medical treatment as needs change over time. GENETIC COUNS …
Abdominal paraganglioma in a young woman with 1p36 deletion syndrome.
Murakoshi M, Takasawa K, Nishioka M, Asakawa M, Kashimada K, Yoshimoto T, Yamamoto T, Takekoshi K, Ogawa Y, Shimohira M. Murakoshi M, et al. Am J Med Genet A. 2017 Feb;173(2):495-500. doi: 10.1002/ajmg.a.38020. Epub 2016 Oct 24. Am J Med Genet A. 2017. PMID: 27774766
1p36 deletion syndrome is the most common terminal deletion syndrome, and the genomic regions that contribute to specific 1p36 deletion syndrome-related phenotypes were recently identified. ...Therefore, it was suspected that patients wit …
1p36 deletion syndrome is the most common terminal deletion syndrome, and the genomic regions that contribute to …
Correlation between IDH, ATRX, and TERT promoter mutations in glioma.
Ohba S, Kuwahara K, Yamada S, Abe M, Hirose Y. Ohba S, et al. Brain Tumor Pathol. 2020 Apr;37(2):33-40. doi: 10.1007/s10014-020-00360-4. Epub 2020 Mar 29. Brain Tumor Pathol. 2020. PMID: 32227259 Review.
According to the 2016 World Health Organization (WHO) classification of central nervous system tumors, diffuse astrocytic and oligodendroglial tumors are differentiated by the presence of isocitrate dehydrogenase 1 or 2 (IDH1/2) mutation and the combined loss of the short arm of …
According to the 2016 World Health Organization (WHO) classification of central nervous system tumors, diffuse astrocytic and oligodendrogli …
ATRX loss refines the classification of anaplastic gliomas and identifies a subgroup of IDH mutant astrocytic tumors with better prognosis.
Wiestler B, Capper D, Holland-Letz T, Korshunov A, von Deimling A, Pfister SM, Platten M, Weller M, Wick W. Wiestler B, et al. Acta Neuropathol. 2013 Sep;126(3):443-51. doi: 10.1007/s00401-013-1156-z. Epub 2013 Aug 1. Acta Neuropathol. 2013. PMID: 23904111 Free article.
It was mostly restricted to IDH mutant tumors and almost mutually exclusive with 1p/19q co-deletion. The ALT phenotype was significantly correlated with ATRX loss. ATRX and 1p/19q status were used to re-classify AOA: AOA harboring ATRX loss shared a similar c …
It was mostly restricted to IDH mutant tumors and almost mutually exclusive with 1p/19q co-deletion. The ALT phenotype was sig …
Diagnostic yield by supplementing prenatal metaphase karyotyping with MLPA for microdeletion syndromes and subtelomere imbalances.
Kjaergaard S, Sundberg K, Jørgensen FS, Rohde MD, Lind AM, Gerdes T, Tabor A, Kirchhoff M. Kjaergaard S, et al. Prenat Diagn. 2010 Oct;30(10):995-9. doi: 10.1002/pd.2604. Prenat Diagn. 2010. PMID: 20824892
OBJECTIVE: The aim of the study was to retrospectively assess the relevance of using multiplex ligation-dependent probe amplification (MLPA) for detection of selected microdeletion syndromes (22q11, Prader-Willi/Angelman, Miller-Dieker, Smith-Magenis, 1p-, Williams) …
OBJECTIVE: The aim of the study was to retrospectively assess the relevance of using multiplex ligation-dependent probe amplification (MLPA) …
Subtelomeric rearrangements of dysmorphic children with idiopathic mental retardation reveal 8 different chromosomal anomalies.
Mihçi E, Ozcan M, Berker-Karaüzüm S, Keser I, Taçoy S, Hapsolat S, Lüleci G. Mihçi E, et al. Turk J Pediatr. 2009 Sep-Oct;51(5):453-9. Turk J Pediatr. 2009. PMID: 20112600
Subtelomeric rearrangements are an important cause of both sporadic and familial idiopathic mental retardation (MR) and/or congenital malformation syndromes. We report on a cohort of 107 children with idiopathic MR and normal karyotype 450-550 band level by GTG banding scr …
Subtelomeric rearrangements are an important cause of both sporadic and familial idiopathic mental retardation (MR) and/or congenital malfor …
Fine-mapping subtelomeric deletions and duplications by comparative genomic hybridization in 42 individuals.
DeScipio C, Spinner NB, Kaur M, Yaeger D, Conlin LK, Ambrosini A, Hu S, Shan S, Krantz ID, Riethman H. DeScipio C, et al. Am J Med Genet A. 2008 Mar 15;146A(6):730-9. doi: 10.1002/ajmg.a.32216. Am J Med Genet A. 2008. PMID: 18257100
Several of these have been described as clinically recognizable syndromes (e.g., deletion of 1p, 3p, 5q, 6p, 9q, and 22q). Given this, fine-mapping of subtelomeric breakpoints is of increasing importance to the assessment of genotype-phenotype correlations in …
Several of these have been described as clinically recognizable syndromes (e.g., deletion of 1p, 3p, 5q, 6p, 9q, and 22 …
Fine analysis of the short arm of chromosome 1 in sporadic and familial pheochromocytoma.
Opocher G, Schiavi F, Vettori A, Pampinella F, Vitiello L, Calderan A, Vianello B, Murgia A, Martella M, Taccaliti A, Mantero F, Mostacciuolo ML. Opocher G, et al. Clin Endocrinol (Oxf). 2003 Dec;59(6):707-15. doi: 10.1046/j.1365-2265.2003.01910.x. Clin Endocrinol (Oxf). 2003. PMID: 14974911
RESULTS: In 12/21 sporadic cases (57.1%), in 4/5 MEN2 (80%), 2/4 non-syndromic familial cases (50%), and in 2/2 NF1 (100%), the entire short arm was deleted, while in 6/21 sporadic (28.6%) and 1/5 MEN2 (20%) cases a partial deletion was detected. ...This regi …
RESULTS: In 12/21 sporadic cases (57.1%), in 4/5 MEN2 (80%), 2/4 non-syndromic familial cases (50%), and in 2/2 NF1 (100%), the entir …
Mild craniosynostosis with 1p36.3 trisomy and 1p36.3 deletion syndrome caused by familial translocation t(Y;1).
Hiraki Y, Fujita H, Yamamori S, Ohashi H, Eguchi M, Harada N, Mizuguchi T, Matsumoto N. Hiraki Y, et al. Am J Med Genet A. 2006 Aug 15;140(16):1773-7. doi: 10.1002/ajmg.a.31364. Am J Med Genet A. 2006. PMID: 16835918
Fluorescence in situ hybridization (FISH) showed that his trisomy spanned the 5.3-Mb region from 1p telomere harboring the critical region for craniosynostosis. To our knowledge, the man is the first case of a pure type of simple 1p36.3 trisomy as the effect of hete …
Fluorescence in situ hybridization (FISH) showed that his trisomy spanned the 5.3-Mb region from 1p telomere harboring the cri …
Array comparative genomic hybridisation-based identification of two imbalances of chromosome 1p in a 9-year-old girl with a monosomy 1p36 related phenotype and a family history of learning difficulties: a case report.
Fitzgibbon GJ, Clayton-Smith J, Banka S, Hamilton SJ, Needham MM, Dore JK, Miller JT, Pawson GD, Gaunt L. Fitzgibbon GJ, et al. J Med Case Rep. 2008 Nov 19;2:355. doi: 10.1186/1752-1947-2-355. J Med Case Rep. 2008. PMID: 19019217 Free PMC article.
INTRODUCTION: Monosomy 1p36 is one of the most common terminal deletion syndromes, with an approximate incidence of 1 in every 5000 live births. ...Over 70% of 1p36 deletion patients have a true terminal deletion. A further 7% have interstitial dele …
INTRODUCTION: Monosomy 1p36 is one of the most common terminal deletion syndromes, with an approximate incidence of 1 in every …
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