Monosomy 9p (also known as Alfi's Syndrome or simply 9P-) is a rare chromosomal disorder in which some DNA is missing or has been deleted on the short arm region, “p”, of one of the 9th Chromosomes (9p22.2-p23). This deletion either happens de novo or a result of a parent having the chromosome abnormality. This rare chromosome abnormality is often diagnosed after birth when development delay, irregular facial features, and structural irregularities within the heart, and genital defects are noticed. Treatments for this syndrome usually focus on fixing the common malformations associated with this syndrome. Chromosome 9p deletion syndrome was first discovered in 1973 when 3 infants with similar clinical features were observed to have a partial deletion of the short arm of Chromosome 9. Sympt
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| - Monosomia 9p (ca)
- Partielle Monosomie 9p (de)
- Monosomie 9p (fr)
- Monosomy 9p (en)
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| - La monosomia 9p (també coneguda com a síndrome d'Alfi o simplement 9P-) és un trastorn cromosòmic rar en el qual hi ha una supressió (monosomia) d'una part del cromosoma 9. Els símptomes inclouen microgenitàlia, discapacitat intel·lectual amb microcefàlia i característiques dismòrfiques. La ubicació recentment s'ha reduït a 9p22.2-p23. Amb aquesta malaltia s'han associat diversos trets clínics incloent trigonocefàlia, occipital aplanat, front destacat, pont nasal ampli i pla, narius antevertides, orelles externes malformades, hipertelorisme i hipertonia. (ca)
- Die Partielle Monosomie 9p ist eine Krankheitsgruppe sehr seltener angeborener Erbgutveränderungen am Chromosom 9. Synonym(e) sind: Partielle Monosomie 9p; Chromosom 9, partielle Deletion des kurzen Arms; Partielle Monosomie des kurzen Arms von Chromosom 9 Diese Gruppe umfasst Monosomie 9p, Mikrodeletionssyndrom 9p13 und Distale Monosomie 9p. (de)
- La monosomie 9p (ou Syndrome d'Alfi, ou 9p-) est une anomalie chromosomique rare consistant en une délétion d'une partie [du] petit bras du chromosome 9. Les porteurs de cette anomalie chromosomique se caractérisent par une dysmorphie faciale (trigonocéphalie, hypoplasie du centre de la face et long philtrum), une hypotonie ainsi qu'un retard mental (fr)
- Monosomy 9p (also known as Alfi's Syndrome or simply 9P-) is a rare chromosomal disorder in which some DNA is missing or has been deleted on the short arm region, “p”, of one of the 9th Chromosomes (9p22.2-p23). This deletion either happens de novo or a result of a parent having the chromosome abnormality. This rare chromosome abnormality is often diagnosed after birth when development delay, irregular facial features, and structural irregularities within the heart, and genital defects are noticed. Treatments for this syndrome usually focus on fixing the common malformations associated with this syndrome. Chromosome 9p deletion syndrome was first discovered in 1973 when 3 infants with similar clinical features were observed to have a partial deletion of the short arm of Chromosome 9. Sympt (en)
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| - La monosomia 9p (també coneguda com a síndrome d'Alfi o simplement 9P-) és un trastorn cromosòmic rar en el qual hi ha una supressió (monosomia) d'una part del cromosoma 9. Els símptomes inclouen microgenitàlia, discapacitat intel·lectual amb microcefàlia i característiques dismòrfiques. La ubicació recentment s'ha reduït a 9p22.2-p23. Amb aquesta malaltia s'han associat diversos trets clínics incloent trigonocefàlia, occipital aplanat, front destacat, pont nasal ampli i pla, narius antevertides, orelles externes malformades, hipertelorisme i hipertonia. (ca)
- Die Partielle Monosomie 9p ist eine Krankheitsgruppe sehr seltener angeborener Erbgutveränderungen am Chromosom 9. Synonym(e) sind: Partielle Monosomie 9p; Chromosom 9, partielle Deletion des kurzen Arms; Partielle Monosomie des kurzen Arms von Chromosom 9 Diese Gruppe umfasst Monosomie 9p, Mikrodeletionssyndrom 9p13 und Distale Monosomie 9p. (de)
- La monosomie 9p (ou Syndrome d'Alfi, ou 9p-) est une anomalie chromosomique rare consistant en une délétion d'une partie [du] petit bras du chromosome 9. Les porteurs de cette anomalie chromosomique se caractérisent par une dysmorphie faciale (trigonocéphalie, hypoplasie du centre de la face et long philtrum), une hypotonie ainsi qu'un retard mental (fr)
- Monosomy 9p (also known as Alfi's Syndrome or simply 9P-) is a rare chromosomal disorder in which some DNA is missing or has been deleted on the short arm region, “p”, of one of the 9th Chromosomes (9p22.2-p23). This deletion either happens de novo or a result of a parent having the chromosome abnormality. This rare chromosome abnormality is often diagnosed after birth when development delay, irregular facial features, and structural irregularities within the heart, and genital defects are noticed. Treatments for this syndrome usually focus on fixing the common malformations associated with this syndrome. Chromosome 9p deletion syndrome was first discovered in 1973 when 3 infants with similar clinical features were observed to have a partial deletion of the short arm of Chromosome 9. Symptoms include microgenitalia, intellectual disability with microcephaly and dysmorphic features. (en)
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