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46;X;t(X;21)(q26.1;q21.22)dn AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 20, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000258627.2

Allele description [Variation Report for 46;X;t(X;21)(q26.1;q21.22)dn]

46;X;t(X;21)(q26.1;q21.22)dn

Variant type:
Translocation
Cytogenetic location:
21q21.22
Preferred name:
46;X;t(X;21)(q26.1;q21.22)dn

Condition(s)

Name:
Obesity
Synonyms:
Obesity disorder
Identifiers:
MONDO: MONDO:0011122; MeSH: D009765; MedGen: C0028754; Orphanet: 71529; Human Phenotype Ontology: HP:0001513
Name:
Motor delay
Synonyms:
Motor retardation; motor developmental delay
Identifiers:
MedGen: C1854301; Human Phenotype Ontology: HP:0001270
Name:
Short stature
Identifiers:
MedGen: C0349588; Human Phenotype Ontology: HP:0004322
Name:
Upslanted palpebral fissure
Identifiers:
MedGen: C0423109; Human Phenotype Ontology: HP:0000582
Name:
Frequent falls
Identifiers:
MedGen: C0850703; Human Phenotype Ontology: HP:0002359
Name:
Delayed speech and language development
Identifiers:
MedGen: C0454644; Human Phenotype Ontology: HP:0000750
Name:
Thin upper lip vermilion
Identifiers:
MedGen: C1865017; Human Phenotype Ontology: HP:0000219
Name:
Intellectual disability, mild
Identifiers:
MedGen: C0026106; Human Phenotype Ontology: HP:0001256
Name:
Bilateral tonic-clonic seizure
Synonyms:
Generalized tonic-clonic seizures
Identifiers:
MedGen: C0494475; Human Phenotype Ontology: HP:0002069
Name:
Generalized myoclonic seizure
Synonyms:
Generalized myoclonic seizures
Identifiers:
MedGen: C4021759; Human Phenotype Ontology: HP:0002123
Name:
Clumsiness
Identifiers:
MedGen: C0233844; Human Phenotype Ontology: HP:0002312
Name:
Developmental regression
Synonyms:
C1836830
Identifiers:
MedGen: C1836830; Human Phenotype Ontology: HP:0002376
Name:
Unilateral ptosis
Identifiers:
MedGen: C1866806; Human Phenotype Ontology: HP:0007687
Name:
High myopia
Synonyms:
Severe Myopia
Identifiers:
MedGen: C0271183; Human Phenotype Ontology: HP:0011003
Name:
Interictal epileptiform activity
Synonyms:
Epileptiform EEG discharges
Identifiers:
MedGen: C4023491; Human Phenotype Ontology: HP:0011182
Name:
Camptodactyly of finger
Identifiers:
MedGen: C0409348; Human Phenotype Ontology: HP:0100490

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000320971Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital
criteria provided, single submitter

(Talkowski Lab Assertion Criteria for BCA 2016)
Uncertain significance
(Aug 20, 2016)
de novoresearch

PubMed (1)
[See all records that cite this PMID]

Talkowski_Lab_Assertion_Criteria_for_BCA_2016.pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, et al.

Nat Genet. 2017 Jan;49(1):36-45. doi: 10.1038/ng.3720. Epub 2016 Nov 14.

PubMed [citation]
PMID:
27841880
PMCID:
PMC5307971

Details of each submission

From Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital, SCV000320971.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 9, 2023