FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3032393745> ?p ?o ?g. }

• W3032393745 abstract "Concomitant trisomy 2q3 and monosomy 4q3 have been rarely reported. Pure trisomy 2q3 has been associated with microcephaly, hypertelorism, low-set ears, micrognathia, visceral abnormalities, and growth retardation. Monosomy 4q3 includes a wide variety of dysmorphic features such an abnormal skull shape, hypertelorism, Pierre Robin sequence, short nose with abnormal bridge, fifth finger clinodactyly, congenital heart, and genitourinary defects, in addition to intellectual disability, developmental delay, and hypotonia, but more distal deletions involving 4q34-qter may result in milder phenotypes. Here, we present a child with a mild dysmorphic syndrome, resulted of a duplication 2q34-qter and a deletion 4q35.2-qter inherited of his father.We report a child, who at birth presented hypotonia, dysmorphism, and bilateral cryptorchidism. At 2 years and 9 month of age he showed brachycephaly, narrow forehead, bilateral frontoparietal hypertrichosis, down slanting palpebral fissures, sparse eyebrows, sparse short eyelashes, hypertelorism, depressed nasal root, broad nasal bridge, bulbous nasal tip, prominent colummela, broad nasal ala, smooth filtrum, high arched palate, thin upper lips, and ears rotated backwards. He also showed telethelia, hypertrichosis from dorsal to the sacral region, hands with clinodactyly and hypoplasia of the terminal phalanx of the fifth finger, and broad thumbs, broad first toes, and right cryptorchidism. A chromosomal study revealed a karyotype 46,XY,der(4)t(2;4)(q34;q35.2), while an array comparative genomic hybridization showed a 31.12 Mb duplication of the chromosome 2q34-q37.3 and a 1.49 Mb deletion in the chromosome 4q35.2.To our knowledge, only four families with translocation t(2;4) have been reported, two of them involving t(2q;4q), but the breakpoints involved in our patient have not been previously observed. The genomic imbalance in this patient was a duplication of 318 genes of the region 2q34-q37.3 and a deletion of 7 genes of 4q35.2. We discuss difficulty to assign specific congenital abnormalities to these duplicated/deleted regions and include some cases with terminal deletions of 4q with normal or just mildly detectable phenotypic effects." @default.
• W3032393745 created "2020-06-05" @default.
• W3032393745 creator A5003892460 @default.
• W3032393745 creator A5010983500 @default.
• W3032393745 creator A5019594677 @default.
• W3032393745 creator A5050439548 @default.
• W3032393745 creator A5052512497 @default.
• W3032393745 creator A5068712034 @default.
• W3032393745 creator A5083309108 @default.
• W3032393745 creator A5085637999 @default.
• W3032393745 creator A5087421051 @default.
• W3032393745 creator A5088929374 @default.
• W3032393745 date "2020-05-19" @default.
• W3032393745 modified "2023-10-16" @default.
• W3032393745 title "Report of trisomy 2q34-qter and monosomy 4q35.2-qter in a child with mild dysmorphic syndrome and karyotype 46,XY,der(4)t(2;4)(q34;q35.2)pat" @default.
• W3032393745 cites W1482498530 @default.
• W3032393745 cites W1498647177 @default.
• W3032393745 cites W1980756201 @default.
• W3032393745 cites W1983037284 @default.
• W3032393745 cites W1989467066 @default.
• W3032393745 cites W1995138282 @default.
• W3032393745 cites W1998838136 @default.
• W3032393745 cites W1998891248 @default.
• W3032393745 cites W2003663964 @default.
• W3032393745 cites W2005631784 @default.
• W3032393745 cites W2015531961 @default.
• W3032393745 cites W2024773164 @default.
• W3032393745 cites W2034097483 @default.
• W3032393745 cites W2038763916 @default.
• W3032393745 cites W2039243963 @default.
• W3032393745 cites W2039338127 @default.
• W3032393745 cites W2049797125 @default.
• W3032393745 cites W2052348059 @default.
• W3032393745 cites W2054338378 @default.
• W3032393745 cites W2070227010 @default.
• W3032393745 cites W2095333479 @default.
• W3032393745 cites W2122181081 @default.
• W3032393745 cites W2134383605 @default.
• W3032393745 cites W2139345487 @default.
• W3032393745 cites W2143277343 @default.
• W3032393745 cites W2155427045 @default.
• W3032393745 cites W2164166868 @default.
• W3032393745 cites W2172269228 @default.
• W3032393745 cites W2273253294 @default.
• W3032393745 cites W2400009145 @default.
• W3032393745 cites W2400752639 @default.
• W3032393745 cites W2409288202 @default.
• W3032393745 cites W2418314770 @default.
• W3032393745 doi "https://doi.org/10.1186/s13039-020-00484-4" @default.
• W3032393745 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7236877" @default.
• W3032393745 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32467733" @default.
• W3032393745 hasPublicationYear "2020" @default.
• W3032393745 type Work @default.
• W3032393745 sameAs 3032393745 @default.
• W3032393745 citedByCount "2" @default.
• W3032393745 countsByYear W30323937452021 @default.
• W3032393745 crossrefType "journal-article" @default.
• W3032393745 hasAuthorship W3032393745A5003892460 @default.
• W3032393745 hasAuthorship W3032393745A5010983500 @default.
• W3032393745 hasAuthorship W3032393745A5019594677 @default.
• W3032393745 hasAuthorship W3032393745A5050439548 @default.
• W3032393745 hasAuthorship W3032393745A5052512497 @default.
• W3032393745 hasAuthorship W3032393745A5068712034 @default.
• W3032393745 hasAuthorship W3032393745A5083309108 @default.
• W3032393745 hasAuthorship W3032393745A5085637999 @default.
• W3032393745 hasAuthorship W3032393745A5087421051 @default.
• W3032393745 hasAuthorship W3032393745A5088929374 @default.
• W3032393745 hasBestOaLocation W30323937451 @default.
• W3032393745 hasConcept C104317684 @default.
• W3032393745 hasConcept C105702510 @default.
• W3032393745 hasConcept C16005928 @default.
• W3032393745 hasConcept C2775876775 @default.
• W3032393745 hasConcept C2776229224 @default.
• W3032393745 hasConcept C2776395126 @default.
• W3032393745 hasConcept C2776950073 @default.
• W3032393745 hasConcept C2779142324 @default.
• W3032393745 hasConcept C2779286207 @default.
• W3032393745 hasConcept C2779546488 @default.
• W3032393745 hasConcept C2780327212 @default.
• W3032393745 hasConcept C30481170 @default.
• W3032393745 hasConcept C53226629 @default.
• W3032393745 hasConcept C54355233 @default.
• W3032393745 hasConcept C71924100 @default.
• W3032393745 hasConcept C86803240 @default.
• W3032393745 hasConceptScore W3032393745C104317684 @default.
• W3032393745 hasConceptScore W3032393745C105702510 @default.
• W3032393745 hasConceptScore W3032393745C16005928 @default.
• W3032393745 hasConceptScore W3032393745C2775876775 @default.
• W3032393745 hasConceptScore W3032393745C2776229224 @default.
• W3032393745 hasConceptScore W3032393745C2776395126 @default.
• W3032393745 hasConceptScore W3032393745C2776950073 @default.
• W3032393745 hasConceptScore W3032393745C2779142324 @default.
• W3032393745 hasConceptScore W3032393745C2779286207 @default.
• W3032393745 hasConceptScore W3032393745C2779546488 @default.
• W3032393745 hasConceptScore W3032393745C2780327212 @default.
• W3032393745 hasConceptScore W3032393745C30481170 @default.
• W3032393745 hasConceptScore W3032393745C53226629 @default.
• W3032393745 hasConceptScore W3032393745C54355233 @default.
• W3032393745 hasConceptScore W3032393745C71924100 @default.
• W3032393745 hasConceptScore W3032393745C86803240 @default.

• next