Distal 17q deletion (Q101727): Difference between revisions
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A síndrome da deleção do cromossomo 17q (deleção do braço longo do cromossomo 17) é um transtorno cromossômico muito raro caracterizado por múltiplas anormalidades craniofaciais (microcefalia e deformidades de olhos, orelhas e nariz), de membros e outras anormalidades de múltiplos órgãos, retardo de crescimento e motor, e déficit intelectual . A síndrome é frequentemente letal. | |||
| description / en | description / en | ||
Chromosome 17q deletion syndrome (deletion of the long arm of chromosome 17) is a very rare chromosomal disorder characterised by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. | |||
Revision as of 18:34, 16 August 2026
Chromosome 17q deletion syndrome (deletion of the long arm of chromosome 17) is a very rare chromosomal disorder characterised by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal.
| Language | Label | Description | Also known as |
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| default for all languages | ID_19213480 |
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| English | Distal 17q deletion |
Chromosome 17q deletion syndrome (deletion of the long arm of chromosome 17) is a very rare chromosomal disorder characterised by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. |
