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El síndrome de microduplicacion 1q21.1 consiste en que una parte del cromosoma 1p21.1 está duplicada. Esta condición es un tipo de trisomía cromosomática poco frecuente, y tiene una penetrancia incompleta y expresión variable.
, Het 1q21.1-duplicatiesyndroom is een zeldz … Het 1q21.1-duplicatiesyndroom is een zeldzame afwijking van chromosoom 1. Normaal bevat een menselijke cel één paar identieke chromosomen van chromosoom 1. Bij 1q21.1-duplicatiesydroom is één chromosoom van het paar chromosomen overcompleet, doordat delen van de sequentie van het chromosoom dubbel of driemaal voorkomen op eenzelfde locatie. Een van de chromosomen heeft daardoor de normale lengte en het andere is te lang. In de typeaanduiding van het syndroom staat de '1' voor chromosoom 1, de 'q' voor het lange deel van het chromosoom, '21.1' voor de band waarin de afwijking zich bevindt en 'duplicatie' voor het feit dat het om een deel van het chromosoom gaat dat overcompleet is. Het is een vorm van de 1q21.1-copynumbervariaties en het betreft een duplicatie in het distale gebied van de 1q21.1-band. De afwijking kent een fenotype met een hoge mate van genetische variatie en kan bij individuen in verschillende vormen voorkomen. Er zijn gevallen bekend van dragers van de afwijking die volkomen normaal functioneren. Daarnaast zijn er gevallen met symptomen van geestelijke achterstand en diverse lichamelijke afwijkingen. Unique, de internationale vereniging van mensen met een zeldzame chromosoomafwijking, kent 57 geregistreerde gevallen van deze duplicatie wereldwijd (oktober 2012).deze duplicatie wereldwijd (oktober 2012).
, 1q21.1 duplication syndrome or 1q21.1 (rec … 1q21.1 duplication syndrome or 1q21.1 (recurrent) microduplication is a rare aberration of chromosome 1. In a common situation a human cell has one pair of identical chromosomes on chromosome 1. With the 1q21.1 duplication syndrome one chromosome of the pair is over complete, because a part of the sequence of the chromosome is duplicated twice or more. In 1q21.1, the '1' stands for chromosome 1, the 'q' stands for the long arm of the chromosome and '21.1' stands for the part of the long arm in which the duplication is situated. Next to the duplication syndrome, there is also a 1q21.1 deletion syndrome. While there are two or three copies of a similar part of the DNA on a particular spot with the duplication syndrome, there is a part of the DNA missing with the deletion syndrome on the same spot. Literature refers to both the deletion and the duplication as the 1q21.1 copy-number variations (CNV). The CNV leads to a very variable phenotype and the manifestations in individuals are quite variable. Some people who have the syndrome can function in a normal way, while others have symptoms of developmental delays and various physical anomalies.tal delays and various physical anomalies.
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Het 1q21.1-duplicatiesyndroom is een zeldz … Het 1q21.1-duplicatiesyndroom is een zeldzame afwijking van chromosoom 1. Normaal bevat een menselijke cel één paar identieke chromosomen van chromosoom 1. Bij 1q21.1-duplicatiesydroom is één chromosoom van het paar chromosomen overcompleet, doordat delen van de sequentie van het chromosoom dubbel of driemaal voorkomen op eenzelfde locatie. Een van de chromosomen heeft daardoor de normale lengte en het andere is te lang. Unique, de internationale vereniging van mensen met een zeldzame chromosoomafwijking, kent 57 geregistreerde gevallen van deze duplicatie wereldwijd (oktober 2012).deze duplicatie wereldwijd (oktober 2012).
, 1q21.1 duplication syndrome or 1q21.1 (rec … 1q21.1 duplication syndrome or 1q21.1 (recurrent) microduplication is a rare aberration of chromosome 1. In a common situation a human cell has one pair of identical chromosomes on chromosome 1. With the 1q21.1 duplication syndrome one chromosome of the pair is over complete, because a part of the sequence of the chromosome is duplicated twice or more. In 1q21.1, the '1' stands for chromosome 1, the 'q' stands for the long arm of the chromosome and '21.1' stands for the part of the long arm in which the duplication is situated. arm in which the duplication is situated.
, El síndrome de microduplicacion 1q21.1 consiste en que una parte del cromosoma 1p21.1 está duplicada. Esta condición es un tipo de trisomía cromosomática poco frecuente, y tiene una penetrancia incompleta y expresión variable.
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1q21.1-duplicatiesyndroom
, Síndrome de microduplicación 1q21.1
, 1q21.1 duplication syndrome
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