FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2056374057> ?p ?o ?g. }

• W2056374057 endingPage "2639" @default.
• W2056374057 startingPage "2634" @default.
• W2056374057 abstract "Abstract Karyotypic discordance between different tissues in an individual is uncommon. We report on a patient with multiple congential anomalies and mosaicism for monosomy 13 limited to fibroblasts. Findings include microcephaly, agenesis of the corpus callosum, bilateral posterior colobomas, cataract and optic nerve dysplasia, patent foramen ovale, renal hypoplasia, hypospadias and unilateral inguinal hernia, unilateral hypoplasia of the lower limb, sparse and patchy hair, subtle pigmentary mosaicism, and global developmental delay. The lymphocyte karyotype was normal, whereas the fibroblast karyotype showed mosaicism for a del(13)(q11 → ter). Review of the literature identified three previous reports of similar patients with multiple congenital anomalies, normal lymphocyte karyotype, and subsequent, diagnostic fibroblast karyotyping. Comparison of the previously reported patients with the patient reported here defines a common phenotype for tissue‐limited mosaicism for monosomy 13 consisting of prenatal‐onset growth deficiency; microcephaly; facial abnormalities including prominent nasal bridge, hypertelorism, ptosis, epicanthal folds, microphthalmia, coloboma, retinoblastoma, prominent maxilla, micrognathia, and low‐set ears; limb abnormalities including small to absent thumbs, clinodactyly of fifth finger, fused metacarpal bones 4 and 5, talipes equinovarus, and short first toe; cardiac defect; renal anomalies; and genitalia abnormalities including hypospadias and cryptorchidism. In conclusion, this case further emphasizes that fibroblast karyotyping should be employed when the diagnosis remains unclear, especially in the presence of pigmentary mosaicism or segmental hypoplasia. © 2010 Wiley‐Liss, Inc." @default.
• W2056374057 created "2016-06-24" @default.
• W2056374057 creator A5008673335 @default.
• W2056374057 creator A5022548900 @default.
• W2056374057 creator A5064932750 @default.
• W2056374057 creator A5073469490 @default.
• W2056374057 date "2010-09-02" @default.
• W2056374057 modified "2023-10-17" @default.
• W2056374057 title "Tissue-limited mosaicism for monosomy 13" @default.
• W2056374057 cites W1968058721 @default.
• W2056374057 cites W1971334373 @default.
• W2056374057 cites W1978411282 @default.
• W2056374057 cites W1992878756 @default.
• W2056374057 cites W2001925084 @default.
• W2056374057 cites W2018721575 @default.
• W2056374057 cites W2021615791 @default.
• W2056374057 cites W2036969410 @default.
• W2056374057 cites W2050950024 @default.
• W2056374057 cites W2051125597 @default.
• W2056374057 cites W2054107874 @default.
• W2056374057 cites W2056348505 @default.
• W2056374057 cites W2059766379 @default.
• W2056374057 cites W2075303273 @default.
• W2056374057 cites W2076012285 @default.
• W2056374057 cites W2076474987 @default.
• W2056374057 cites W2077067263 @default.
• W2056374057 cites W2084329724 @default.
• W2056374057 cites W2090482442 @default.
• W2056374057 cites W2095540151 @default.
• W2056374057 cites W2135649787 @default.
• W2056374057 cites W2159506124 @default.
• W2056374057 cites W2313648805 @default.
• W2056374057 doi "https://doi.org/10.1002/ajmg.a.33651" @default.
• W2056374057 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20814946" @default.
• W2056374057 hasPublicationYear "2010" @default.
• W2056374057 type Work @default.
• W2056374057 sameAs 2056374057 @default.
• W2056374057 citedByCount "6" @default.
• W2056374057 countsByYear W20563740572013 @default.
• W2056374057 countsByYear W20563740572015 @default.
• W2056374057 countsByYear W20563740572021 @default.
• W2056374057 crossrefType "journal-article" @default.
• W2056374057 hasAuthorship W2056374057A5008673335 @default.
• W2056374057 hasAuthorship W2056374057A5022548900 @default.
• W2056374057 hasAuthorship W2056374057A5064932750 @default.
• W2056374057 hasAuthorship W2056374057A5073469490 @default.
• W2056374057 hasConcept C104317684 @default.
• W2056374057 hasConcept C105702510 @default.
• W2056374057 hasConcept C142724271 @default.
• W2056374057 hasConcept C2776064365 @default.
• W2056374057 hasConcept C2776395126 @default.
• W2056374057 hasConcept C2776950073 @default.
• W2056374057 hasConcept C2777202849 @default.
• W2056374057 hasConcept C2777943302 @default.
• W2056374057 hasConcept C2778085061 @default.
• W2056374057 hasConcept C2778183499 @default.
• W2056374057 hasConcept C2779142324 @default.
• W2056374057 hasConcept C2779286207 @default.
• W2056374057 hasConcept C2780327212 @default.
• W2056374057 hasConcept C2780787877 @default.
• W2056374057 hasConcept C30481170 @default.
• W2056374057 hasConcept C53226629 @default.
• W2056374057 hasConcept C54355233 @default.
• W2056374057 hasConcept C71924100 @default.
• W2056374057 hasConcept C86803240 @default.
• W2056374057 hasConceptScore W2056374057C104317684 @default.
• W2056374057 hasConceptScore W2056374057C105702510 @default.
• W2056374057 hasConceptScore W2056374057C142724271 @default.
• W2056374057 hasConceptScore W2056374057C2776064365 @default.
• W2056374057 hasConceptScore W2056374057C2776395126 @default.
• W2056374057 hasConceptScore W2056374057C2776950073 @default.
• W2056374057 hasConceptScore W2056374057C2777202849 @default.
• W2056374057 hasConceptScore W2056374057C2777943302 @default.
• W2056374057 hasConceptScore W2056374057C2778085061 @default.
• W2056374057 hasConceptScore W2056374057C2778183499 @default.
• W2056374057 hasConceptScore W2056374057C2779142324 @default.
• W2056374057 hasConceptScore W2056374057C2779286207 @default.
• W2056374057 hasConceptScore W2056374057C2780327212 @default.
• W2056374057 hasConceptScore W2056374057C2780787877 @default.
• W2056374057 hasConceptScore W2056374057C30481170 @default.
• W2056374057 hasConceptScore W2056374057C53226629 @default.
• W2056374057 hasConceptScore W2056374057C54355233 @default.
• W2056374057 hasConceptScore W2056374057C71924100 @default.
• W2056374057 hasConceptScore W2056374057C86803240 @default.
• W2056374057 hasIssue "10" @default.
• W2056374057 hasLocation W20563740571 @default.
• W2056374057 hasLocation W20563740572 @default.
• W2056374057 hasOpenAccess W2056374057 @default.
• W2056374057 hasPrimaryLocation W20563740571 @default.
• W2056374057 hasRelatedWork W1583738961 @default.
• W2056374057 hasRelatedWork W1738877850 @default.
• W2056374057 hasRelatedWork W1968024007 @default.
• W2056374057 hasRelatedWork W1970921711 @default.
• W2056374057 hasRelatedWork W2096569762 @default.
• W2056374057 hasRelatedWork W2747479880 @default.
• W2056374057 hasRelatedWork W2949455732 @default.
• W2056374057 hasRelatedWork W3206405084 @default.
• W2056374057 hasRelatedWork W4235334280 @default.

• next