Chromosome 10q26 deletion syndrome

Preferred Label : Chromosome 10q26 deletion syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Terminal chromosome 10q26 deletion syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by deletion of at least 600kb in 10q26.2;

Laboratory abnormalities : Cytogenetic breakpoints range from 10q23.3-q26.2; Cytogenetic deletion of the terminal region of chromosome 10 (del(10)(q23.3-qter));

Prefixed ID : #609625;

Details

Origin ID

609625;

UMLS CUI

C2674937;

Automatic exact mappings (from CISMeF team)
- distal 10q deletion syndrome [DO Concept]
Currated CISMeF NLP mapping
- chromosome 10q26 deletion syndrome [MeSH concept]
- chromosome 10q26 deletion syndrome [MeSH Supplementary Concept]
DO Cross reference
- distal 10q deletion syndrome [DO Concept]
HPO term(s)
- Abnormal rib cage morphology [HPO term]
- Abnormality of metabolism/homeostasis [HPO term]
- Aggressive behavior [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad-based gait [HPO term]
- Clinodactyly [HPO term]
- Convex nasal ridge [HPO term]
- Craniosynostosis [HPO term]
- Cryptorchidism [HPO term]
- Delayed speech and language development [HPO term]
- Dolichocephaly [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Facial asymmetry [HPO term]
- Flared nostrils [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperactivity [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Isolated cases [HPO term]
- Limited elbow extension [HPO term]
- Long philtrum [HPO term]
- Low posterior hairline [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Patent ductus arteriosus [HPO term]
- Postnatal growth retardation [HPO term]
- Prominent ears [HPO term]
- Prominent nose [HPO term]
- Protruding ear [HPO term]
- Radial deviation of finger [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short attention span [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Small for gestational age [HPO term]
- Small nail [HPO term]
- Small scrotum [HPO term]
- Specific learning disability [HPO term]
- Speech and language difficulties [HPO term]
- Sporadic [HPO term]
- Strabismus [HPO term]
- Thin upper lip vermilion [HPO term]
- Toe syndactyly [HPO term]
- Triangular face [HPO term]
- Upslanted palpebral fissure [HPO term]
- Vesicoureteral reflux [HPO term]
- Webbed neck [HPO term]
- Wide intermamillary distance [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Distal monosomy 10q [ORDO Disease]
See also inter- (CISMeF)
- Distal monosomy 10q [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Distal monosomy 10q [ORDO Disease]
- chromosome 10q26 deletion syndrome [MeSH Supplementary Concept]
- chromosome 10q26 deletion syndrome [MeSH concept]

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