10q24qter duplication (Q83222): Difference between revisions
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A trissomia distal do braço longo do cromossomo 10 (10q) é caracterizada por retardo de crescimento pré e pós-natal, um padrão de características faciais específicas (face plana e redonda com bochechas cheias e uma grande testa proeminente, sobrancelhas altamente arqueadas, fissuras palpebrais curtas e estreitas (blefarofimose), olhos bem espaçados com telecanto, nariz curto, boca em forma de arco com lábio superior proeminente e mandíbula pequena), hipotonia e retardo no desenvolvimento e psicomotor. | |||
| description / en | description / en | ||
Distal trisomy of the long arm of chromosome 10 (10q) is characterised by pre- and postnatal growth retardation, a pattern of specific facial features (flat round face with full cheeks and a large prominent forehead, highly arched eyebrows, short and narrow palpebral fissures (blepharophimosis), widely spaced eyes with telecanthus, a short nose, a bow-shaped mouth with a prominent upper lip, and a small mandible), hypotonia, and developmental and psychomotor delay. | |||
Revision as of 08:35, 15 August 2026
Distal trisomy of the long arm of chromosome 10 (10q) is characterised by pre- and postnatal growth retardation, a pattern of specific facial features (flat round face with full cheeks and a large prominent forehead, highly arched eyebrows, short and narrow palpebral fissures (blepharophimosis), widely spaced eyes with telecanthus, a short nose, a bow-shaped mouth with a prominent upper lip, and a small mandible), hypotonia, and developmental and psychomotor delay.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1327297771 |
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| English | 10q24qter duplication |
Distal trisomy of the long arm of chromosome 10 (10q) is characterised by pre- and postnatal growth retardation, a pattern of specific facial features (flat round face with full cheeks and a large prominent forehead, highly arched eyebrows, short and narrow palpebral fissures (blepharophimosis), widely spaced eyes with telecanthus, a short nose, a bow-shaped mouth with a prominent upper lip, and a small mandible), hypotonia, and developmental and psychomotor delay. |
