17q11.2 duplication (Q95368): Difference between revisions
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A síndrome de microduplicação 17q11.2 é uma anomalia cromossômica caracterizada por características dismórficas craniofaciais, incluindo microcefalia, face média longa, hipoplasia malar, sobrancelhas esparsas e lábio superior fino e déficit intelectual, início precoce de calvície (15 anos de idade) e hipoplasia do esmalte dentário. | |||
| description / en | description / en | ||
17q11.2 microduplication syndrome is a chromosomal anomaly characterised by craniofacial dysmorphic features including microcephaly, long midface, malar hypoplasia, sparse eyebrows and thin upper lip, and intellectual deficit, early onset of baldness (15 years of age) and dental enamel hypoplasia. | |||
Revision as of 11:06, 16 August 2026
17q11.2 microduplication syndrome is a chromosomal anomaly characterised by craniofacial dysmorphic features including microcephaly, long midface, malar hypoplasia, sparse eyebrows and thin upper lip, and intellectual deficit, early onset of baldness (15 years of age) and dental enamel hypoplasia.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1102310242 |
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| English | 17q11.2 duplication |
17q11.2 microduplication syndrome is a chromosomal anomaly characterised by craniofacial dysmorphic features including microcephaly, long midface, malar hypoplasia, sparse eyebrows and thin upper lip, and intellectual deficit, early onset of baldness (15 years of age) and dental enamel hypoplasia. |
