17p duplication (Q92853): Difference between revisions
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A trissomia 17p é uma anormalidade cromossômica rara resultante da duplicação do braço curto do cromossomo 17 e caracterizada por retardo de crescimento pré e pós-natal, atraso de desenvolvimento, hipotonia, anormalidades digitais, defeitos cardíacos congênitos e características faciais distintas. O dismorfismo facial inclui microcefalia, testa recuada, fissuras palpebrais inclinadas para baixo, ptose, hipertelorismo, orelhas malformadas de implantação baixa, filtro liso, micrognatia, palato arqueado alto e pescoço curto e largo. Anormalidades digitais incluem ausência do quarto e quinto dedos, braquidactilia e clinodactilia do quinto dedo. | |||
| description / en | description / en | ||
Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterised by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features. Facial dysmorphism includes microcephaly, receding forehead, down-slanting palpebral fissures, ptosis, hypertelorism, low-set malformed ears, smooth philtrum, micrognathia, high-arched palate and a short broad neck. Digital abnormalities include absent fourth and fifth digits, brachydactyly and fifth finger clinodactyly. | |||
Revision as of 07:58, 16 August 2026
Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterised by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features. Facial dysmorphism includes microcephaly, receding forehead, down-slanting palpebral fissures, ptosis, hypertelorism, low-set malformed ears, smooth philtrum, micrognathia, high-arched palate and a short broad neck. Digital abnormalities include absent fourth and fifth digits, brachydactyly and fifth finger clinodactyly.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_2140929307 |
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| English | 17p duplication |
Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterised by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features. Facial dysmorphism includes microcephaly, receding forehead, down-slanting palpebral fissures, ptosis, hypertelorism, low-set malformed ears, smooth philtrum, micrognathia, high-arched palate and a short broad neck. Digital abnormalities include absent fourth and fifth digits, brachydactyly and fifth finger clinodactyly. |
