Výsledky vyhledávání - "monosomy 18p"

Akademický článek

18p Deletion Syndrome Originating from Rare Unbalanced Whole-Arm Translocation between Chromosomes 13 and 18: A Case Report and Literature Review

Autor: Ji Young Choi, Ja Un Moon, Da Hye Yoon, Jisook Yim, Myungshin Kim, Min Ho Jung

Publikováno v: Children, Vol 9, Iss 7, p 987 (2022)

18p deletion (18p-) syndrome is a rare chromosome abnormality that has a wide range of phenotypes, with short stature, intellectual disability, and facial dysmorphism being the main clinical features. Here, we report the first case in Korea of a 16-y

Externí odkaz: https://doaj.org/article/95fdec213b744ada9df05dd9b41d4c0a

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Trisomy 20p/monosomy 18p associated with congenital bilateral perisylvian syndrome

Autor: Bonardi, Claudia M., Bayat, Allan, Madsen, Camilla G⊘bel, Hammer, Trine B., Reale, Chiara, Gardella, Elena, Marjanovic, Dragan, Beniczky, Sandor, M⊘ller, Rikke S., Rubboli, Guido

Publikováno v: Bonardi, C M, Bayat, A, Madsen, C G, Hammer, T B, Reale, C, Gardella, E, Marjanovic, D, Beniczky, S, M⊘ller, R S & Rubboli, G 2022, ' Trisomy 20p/monosomy 18p associated with congenital bilateral perisylvian syndrome ', Epileptic Disorders, vol. 24, no. 3, pp. 577-582 . https://doi.org/10.1684/epd.2022.1423

We report the association, not previously described, between trisomy 20/ monosomy 18 and congenital bilateral perisylvian syndrome (CBPS), a condition featuring intellectual disability, epilepsy, oro-motor dysfunction and bilateral perisylvian polymi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61f74188c7c6e529a2bcc8f360626639
https://pure.au.dk/portal/da/publications/trisomy-20pmonosomy-18p-associated-with-congenital-bilateral-perisylvian-syndrome(d2eab872-e220-45c0-9523-dba96b17f8e7).html

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Akademický článek

Prenatal diagnosis and molecular cytogenetic characterization of a derivative chromosome der(18;18)(q10;q10)del(18)(q11.1q12.1)del(18)(q22.1q22.3) presenting as apparent isochromosome 18q in a fetus with holoprosencephaly

Autor: Chih-Ping Chen, Yau-Kun Kuo, Yi-Ning Su, Schu-Rern Chern, Fuu-Jen Tsai, Pei-Chen Wu, Yu-Ting Chen, Dai-Dyi Town, Wayseen Wang

Publikováno v: Taiwanese Journal of Obstetrics & Gynecology, Vol 50, Iss 2, Pp 182-187 (2011)

Objective: To present prenatal diagnosis and molecular cytogenetic characterization of a derivative chromosome der(18;18)(q10;q10)del(18)(q11.1q12.1)del(18)(q22.1q22.3). Materials, Methods, and Results: A 32-year-old woman was referred for genetic co

Externí odkaz: https://doaj.org/article/138efa62789b4ffc93260ba75197bbec

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Akademický článek

Deletion of short arm of chromosome 18, Del(18p) syndrome

Autor: Prashant Babaji, Anurag Singh, Himani Lau, G Lamba, P Somasundaram

Publikováno v: Journal of Indian Society of Pedodontics and Preventive Dentistry, Vol 32, Iss 1, Pp 68-70 (2014)

Deletion of the short arm of chromosome 18 is a rare syndrome clinically presenting with variable mental retardation, growth retardation, low height, pectus excavatum, craniofacial malformations including long ear, ptosis, microcephaly and short neck

Externí odkaz: https://doaj.org/article/01279bb17ad2403f92e5ae3ebba7f449

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Akademický článek

A Rare Association of Monosomy 18P Syndrome and Polyglandular Autoimmune Syndrome Type IIIA

Autor: Dolek-Cetinkaya D, Demirpence M.M., Gorgel A, Salgur F, Bahceci M

Publikováno v: Balkan Journal of Medical Genetics, Vol 16, Iss 1, Pp 81-83 (2013)

We report a monosomy 18p syndrome in a male patient with polyglandular autoimmune syndrome (PAS) type IIIA. A 34-year-old mentally retarded diabetic male patient with short stature, wide earlaps, old-looking face, straight nasal bone, atrophic mouth,

Externí odkaz: https://doaj.org/article/0333493b021b473ea71a232e58b522c5

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Akademický článek

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[Congenital hypopituitarism with monosomy of chromosome 18]

Autor: V A Peterkova, Anna V Degtyareva, A A Puchkova, Z Sh Gadzhieva, Maria Melikyan, Anna V. Bolmasova

Publikováno v: Problemy endokrinologii. 67(4)

Congenital hypopituitarism is a rare disease. It can be caused by isolated inborn defects of the pituitary, gene mutations (PROP1, PIT1), and chromosomal abnormalities.Deletions of chromosome 18 (De Grouchy syndrome types 1 and 2) are a group of rare

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::297ff2bc6952fcc21ee179d32359e307
https://pubmed.ncbi.nlm.nih.gov/34533014

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AB0956 JIA ASSOCIATED TO CHROMOSOME 18 SHORT ARM DELETION: A CASE REPORT

Autor: Marie Claude Fadous Khalife, Rawane Dagher, Marie Samarani, Fouad Minkara

Publikováno v: Abstracts Accepted for Publication.

Background Monosomy 18p is a rare chromosomal disease resulting from complete or partial deletion of chromosome 18 short arm. It is associated with a variable phenotypic spectrum. Most reported patients have holoprosencephaly, developmental delay, sh

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1e81b074420901232fbd34d7290538aa
https://doi.org/10.1136/annrheumdis-2019-eular.3774

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