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Non-distal trisomy 10q

MedGen UID:
1664181
Concept ID:
C4749376
Disease or Syndrome
Synonyms: Non-distal duplication 10q; non-distal duplication 10q; non-distal trisomy 10q; non-distal trisomy type 10q; Non-telomeric trisomy 10q; non-telomeric trisomy 10q
SNOMED CT: Non-telomeric trisomy 10q (770666006); Non-distal trisomy 10q (770666006); Non-distal duplication 10q (770666006)
 
Monarch Initiative: MONDO:0015712
Orphanet: ORPHA1695

Definition

A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 10. Characteristics include mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (including microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (for example iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (for example septal ventricular defect), anal atresia, and cryptorchidism. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

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