17p duplication (Q92853): Difference between revisions

@@ description / pt-br / description / pt-br @@
+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.
@@ Property / Canonical URI @@
+https://id.who.int/icd/entity/2140929307
@@ Property / Canonical URI: https://id.who.int/icd/entity/2140929307 / rank @@
+Normal rank
@@ Property / CURIE @@
+CID11:ID_2140929307
@@ Property / CURIE: CID11:ID_2140929307 / rank @@
+Normal rank
@@ Property / Canary Token @@
+dki-india-ID_2140929307
@@ Property / Canary Token: dki-india-ID_2140929307 / rank @@
+Normal rank
@@ Property / Verification Status @@
+Concluído
@@ Property / Verification Status: Concluído / rank @@
+Normal rank
@@ Property / Knowledge Architect @@
+https://pauloleads.com.br/cases-publicos/
+Normal rank
@@ Property / Collection date @@
+August 2026Timestamp +2026-08-15T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
-Timestamp
++2026-08-15T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / Collection date: 15 August 2026 / rank @@
+Normal rank

Latest 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
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.