Matches in SemOpenAlex for { <https://semopenalex.org/work/W4220935557> ?p ?o ?g. }
- W4220935557 abstract "Maternal non-Robertsonian translocation-t(20;22)(q13;q11.2) between chromosomes 20 and 22resulting in an additional complex small supernumerary marker chromosome as derivative (22)inherited to the proband is not been reported yet.A 4 years old boy with a history of developmental delay, low set ears, and facial dysmorphism was presented to the genetic clinic. Periauricular pit, downward slanting eyes, medially flared eyebrows, downturned mouth corners, and micrognathia were observed. He had congenital heart defect with atrial septal defect (ASD), ventricular septal defect (VSD), and central nervous system (CNS) anomalies with the gross cranium. Karyotype analysis, Fluorescent in-situ hybridization analysis (FISH), and Chromosomal microarray analysis (CMA) were used to determine the chromosomal origin and segmental composition of the derivative 22 chromosome. Karyotype and FISH analyses were performed to confirm the presence of a supernumerary chromosome, and Microarray analysis was performed to rule out copy number variations in the proband's 22q11.2q12 band point. The probands' karyotype revealed the inherited der(22)t(20;22)(q13;q11.2)dmat. Parental karyotype confirmed the mother as the carrier, with balanced non-Robertsonian translocation-46,XX,t(20;22)(q13;q11.2).The mother had a non-Robertsonian translocation t(20;22)(q13;q11.2) between chromosomes 20 and 22, which resulted in Emanuel syndrome in the proband. The most plausible explanation is 3:1 meiotic malsegregation, which results in the child inheriting derivative chromosome. The parental karyotype study aided in identifying the carrier of the supernumerary der(22), allowing future pregnancies with abnormal offspring to be avoided." @default.
- W4220935557 created "2022-04-03" @default.
- W4220935557 creator A5026924665 @default.
- W4220935557 creator A5033109972 @default.
- W4220935557 creator A5038158600 @default.
- W4220935557 creator A5064470078 @default.
- W4220935557 creator A5068923821 @default.
- W4220935557 creator A5086533107 @default.
- W4220935557 date "2022-03-26" @default.
- W4220935557 modified "2023-10-15" @default.
- W4220935557 title "Supernumerary derivative 22 chromosome resulting from novel constitutional non-Robertsonian translocation: t(20;22)—Case Report" @default.
- W4220935557 cites W1511448709 @default.
- W4220935557 cites W1968554414 @default.
- W4220935557 cites W1985885007 @default.
- W4220935557 cites W1992190205 @default.
- W4220935557 cites W2023068424 @default.
- W4220935557 cites W2049323804 @default.
- W4220935557 cites W2055073263 @default.
- W4220935557 cites W2057441049 @default.
- W4220935557 cites W2062421258 @default.
- W4220935557 cites W2069212127 @default.
- W4220935557 cites W2074837973 @default.
- W4220935557 cites W2076812240 @default.
- W4220935557 cites W2084520706 @default.
- W4220935557 cites W2087749060 @default.
- W4220935557 cites W2096348484 @default.
- W4220935557 cites W2098399933 @default.
- W4220935557 cites W2125499518 @default.
- W4220935557 cites W2135519686 @default.
- W4220935557 cites W2149962831 @default.
- W4220935557 cites W2167023988 @default.
- W4220935557 cites W2167377709 @default.
- W4220935557 cites W2170578535 @default.
- W4220935557 cites W2197578641 @default.
- W4220935557 cites W2206731767 @default.
- W4220935557 cites W2586220862 @default.
- W4220935557 cites W2767697869 @default.
- W4220935557 cites W2790234257 @default.
- W4220935557 cites W2794826320 @default.
- W4220935557 cites W2921202108 @default.
- W4220935557 cites W3131372938 @default.
- W4220935557 cites W3152944413 @default.
- W4220935557 doi "https://doi.org/10.1186/s13039-022-00591-4" @default.
- W4220935557 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35346304" @default.
- W4220935557 hasPublicationYear "2022" @default.
- W4220935557 type Work @default.
- W4220935557 citedByCount "0" @default.
- W4220935557 crossrefType "journal-article" @default.
- W4220935557 hasAuthorship W4220935557A5026924665 @default.
- W4220935557 hasAuthorship W4220935557A5033109972 @default.
- W4220935557 hasAuthorship W4220935557A5038158600 @default.
- W4220935557 hasAuthorship W4220935557A5064470078 @default.
- W4220935557 hasAuthorship W4220935557A5068923821 @default.
- W4220935557 hasAuthorship W4220935557A5086533107 @default.
- W4220935557 hasBestOaLocation W42209355571 @default.
- W4220935557 hasConcept C104317684 @default.
- W4220935557 hasConcept C105702510 @default.
- W4220935557 hasConcept C130773972 @default.
- W4220935557 hasConcept C138626823 @default.
- W4220935557 hasConcept C15151550 @default.
- W4220935557 hasConcept C188997412 @default.
- W4220935557 hasConcept C2777542201 @default.
- W4220935557 hasConcept C2780458022 @default.
- W4220935557 hasConcept C2780610479 @default.
- W4220935557 hasConcept C30481170 @default.
- W4220935557 hasConcept C4169854 @default.
- W4220935557 hasConcept C501734568 @default.
- W4220935557 hasConcept C53226629 @default.
- W4220935557 hasConcept C54355233 @default.
- W4220935557 hasConcept C86546924 @default.
- W4220935557 hasConcept C86803240 @default.
- W4220935557 hasConceptScore W4220935557C104317684 @default.
- W4220935557 hasConceptScore W4220935557C105702510 @default.
- W4220935557 hasConceptScore W4220935557C130773972 @default.
- W4220935557 hasConceptScore W4220935557C138626823 @default.
- W4220935557 hasConceptScore W4220935557C15151550 @default.
- W4220935557 hasConceptScore W4220935557C188997412 @default.
- W4220935557 hasConceptScore W4220935557C2777542201 @default.
- W4220935557 hasConceptScore W4220935557C2780458022 @default.
- W4220935557 hasConceptScore W4220935557C2780610479 @default.
- W4220935557 hasConceptScore W4220935557C30481170 @default.
- W4220935557 hasConceptScore W4220935557C4169854 @default.
- W4220935557 hasConceptScore W4220935557C501734568 @default.
- W4220935557 hasConceptScore W4220935557C53226629 @default.
- W4220935557 hasConceptScore W4220935557C54355233 @default.
- W4220935557 hasConceptScore W4220935557C86546924 @default.
- W4220935557 hasConceptScore W4220935557C86803240 @default.
- W4220935557 hasIssue "1" @default.
- W4220935557 hasLocation W42209355571 @default.
- W4220935557 hasLocation W42209355572 @default.
- W4220935557 hasLocation W42209355573 @default.
- W4220935557 hasOpenAccess W4220935557 @default.
- W4220935557 hasPrimaryLocation W42209355571 @default.
- W4220935557 hasRelatedWork W1557719162 @default.
- W4220935557 hasRelatedWork W1970062917 @default.
- W4220935557 hasRelatedWork W2024897126 @default.
- W4220935557 hasRelatedWork W2097031178 @default.
- W4220935557 hasRelatedWork W2133418833 @default.
- W4220935557 hasRelatedWork W2225254780 @default.
- W4220935557 hasRelatedWork W2417966563 @default.