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Handling Small Supernumerary Marker Chromosomes In Prenatal Diagnostics

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Handling Small Supernumerary Marker Chromosomes In Prenatal Diagnostics

Supernumerary..Marker..Chromosome..in..a..Child..with..Microcephaly..and..Mental..Retardation:..Frenny..Sheth,..Joris..Andrieux*..and..Jayesh..Sheth...From..FRIGE..(Foundation..for.....Liehr..T,..Weise..A...Frequency..of..small..supernumerary..marker..chromosomes..in..prenatal,..newborn,..developmentally..retarded..and..infertility..diagnostics.They...are...found...by...chance...in...normal...individuals...or...at...prenatal...diagnosis....It...may...be...a...cause...of...reproductive...failure...if...it...contributes...to...errors...of...cell...division...during...meiosis....Jafar...et...al...(1994)....Article..abstract...Small..supernumerary..marker..chromosomes..(sSMC)..occur..in..0.075%..of..unselected..prenatal..and..in..0.044%..of..consecutively..studied..postnatal..cases.Cytogenetic....and....molecular....evaluation....of....241....small....supernumerary....marker....chromosomes....:....Cooperative....study....of....19....Italian........./....Cytogenetic....and....molecular....evaluation....of....241....small....supernumerary....marker....chromosomes....:....Cooperative....study....of....19....Italian....laboratories.....In:....Genetics....in.....Prenatal..diagnosis..and..molecular..cytogenetic..characterization..of..a..small..supernumerary..marker..chromosome..derived..from..chromosome..18..and..associated..with..a..reciprocal..translocation..involving..chromosomes..17..and..18In..about..0.05%..of..newborn..children,..small..supernumerary..marker..chromosomes..(sSMC)..are..detected...The..majority..of..these..sSMC..is..proven..to..be..de..novo.Objective:..This..study..aimed..at..presenting..prenatal..diagnosis..and..molecular..cytogenetic..characterization..of..a..small..supernumerary..marker..chromosome..(sSMC)..derived..from..chromosome..8..by..fluorescence..in..situ..hybridization..(FISH),..quantitative..fluorescent..polymerase..chain..reaction..(QF-PCR),..and..array..comparative..genomic..hybridizationssomy),....or....balanced....translocation....are....observed....in....prenatal....diagnosis....omy),....or....balanced....translocation....are....observed....in....prenatal....diagnosis....rranges....anges....ffrom....less....than....1%....to....approximately....66%.....Due....to....the....broad....rom....less....than.........Nietzel....A,....Weise....A,....et....al.....Small....supernumerary....marker....chromosomes....(SMCs):.....Supernumerary..Marker..Chromosome..in..a..Child..with..Microcephaly..and..Mental..Retardation..FRENNY..SHETH,.....Weise..A...Frequency..of..small..supernumerary..marker..chromosomes..in..prenatal,..newborn,..developmentally..retarded..and..infertility..diagnostics...Int..J..Mol..Med..2007;..19:.....Wertelecki..W.TRISOMY...21...WITH...A...SMALL...SUPERNUMERARY...MARKER...CHROMOSOME...DERIVED...FROM...CHROMOSOMES...13/21...AND...18...SHORT...COMMUNICATION...*Corresponding....Prenatal....diagnosis....of....a....small....chromosome....2-derived....supernumerary....marker,....and....review....of....the....reported....casesCongenital....cytogenetic....abnormalities.....Author....Stanislawa....Weremowicz,....PhD.....Stanislawa....Weremowicz,....PhD.....Assistant....Professor....of....Pathology....Harvard....Medical....School;.........Prenatal....diagnosis....of....chromosomal....abnormalities....through....amniocentesis.....In:....Genetic....disorders....and....the....fetus,....4th....ed.........et....al.Multiple..cases..have..been..due..to..small..supernumerary..marker..chromosomes..comprised..of..all..or..a..majority..of..material..from..the..short..arm.....A..blood..chromosome..(cytogenetic)..study..or..a..chromosomal..microarray..analysis..is..required..to..make..the..diagnosis.Genetics....Research....International....is....a....peer-reviewed,....Open....Access....journal....that....publishes....original....research....articles,.........Supernumerary....marker....chromosomes....(SMCs)....are....small....extra....abnormal....chromosomes....with....an....unknown....chromosome....origin....detected....by....conventional....cytogenetic....analysis......supernumerary...chromosomes...that...occur...in...all...cells,...including...trisomies...13,...18...and...21...have...come...from...the...study...of...Down...syndrome........(Small...Tandem...Repeats)...markers...for...the...detection...of...major...chromosomal...aneuploidies...in...prenatal...and...postnatal...diagnosis...involving...chromosomes...13,...18,.......QF-PCR...FOR...PRENATAL...DIAGNOSIS...123...S....No.PRENATAL..DIAGNOSIS..Prenat..Diagn..2007;..27:..380387...Published..online..in..Wiley..InterScience..(www.interscience.wiley.com)..LETTERS..TO..THE..EDITOR..Two..new..cases..of..de..novo..small..supernumerary..marker..chromosomes..(sSMC)Small....supernumerary....marker....chromosomes....(sSMCs)....cannot....be....identified....or....characterized....unambiguously....by....conventional....cytogenetic....banding....techniques.....Until....recently,....the....large....variety....of....marker....chromosomes,....as....well....as....the....limitations....in....their....identification,....have....presented....a....diagnostic....problem.Small..supernumerary..marker..chromosomes..(sSMC)..are..still..a..major..problem..especially..in..prenatal..cytogenetic..diagnostics..and..counseling...These..structurally..abnormal..chromosomes..cannot..be..identified..or..characterized..unambiguously..by..conventional..banding..cytog.Prenatal...diagnosis...of...a...karyotypically...normal...pregnancy...in...a...mother...with...a...supernumerary...neocentric...13q21.......Figure...3FISH...analysis...of...marker...chromosome...and...prenatal...diagnosis....(A)...850...band...ideograms...of...the...normal...chromosome...13,...pericentric....Read...a...post-publication...review...of...Prenatal...Diagnosis...of...Minute...Supernumerary...Marker...Chromosomes...on...Publons. 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