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46;XY;t(18;20)(q21.1;p11.23)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:
RCV000258511.3

Allele description [Variation Report for 46;XY;t(18;20)(q21.1;p11.23)dn]

46;XY;t(18;20)(q21.1;p11.23)dn

Variant type:
Translocation
Cytogenetic location:
18q21.1
Preferred name:
46;XY;t(18;20)(q21.1;p11.23)dn

Condition(s)

Name:
Epicanthus
Synonyms:
Epicanthal fold
Identifiers:
MedGen: C0678230; OMIM: 131500; Human Phenotype Ontology: HP:0000286
Name:
Ebstein anomaly
Synonyms:
Ebstein's anomaly; Ebstein's anomaly of the tricuspid valve; Ebstein anomaly of the tricuspid valve
Identifiers:
MONDO: MONDO:0009144; MedGen: C0013481; Orphanet: 1880; OMIM: 224700; Human Phenotype Ontology: HP:0010316
Name:
Congenital ectopic pupil
Synonyms:
Ectopia pupillae; Congenital eye malformation in which the pupils are displaced from their normal central position; Familial ectopic pupil
Identifiers:
MONDO: MONDO:0007515; MedGen: C1271219; OMIM: 129750; Human Phenotype Ontology: HP:0009918
Name:
Atrial septal defect (ASD)
Synonyms:
Interatrial communication; Defect in the atrial septum
Identifiers:
MONDO: MONDO:0006664; MedGen: C0018817; Orphanet: 1478; OMIM: PS108800; Human Phenotype Ontology: HP:0001631
Name:
Motor delay
Synonyms:
Motor retardation; motor developmental delay
Identifiers:
MedGen: C1854301; Human Phenotype Ontology: HP:0001270
Name:
Visual impairment
Synonyms:
Impaired vision; vision problems
Identifiers:
MedGen: C3665347; Human Phenotype Ontology: HP:0000505
Name:
Long palpebral fissure
Identifiers:
MedGen: C1849340; Human Phenotype Ontology: HP:0000637
Name:
Atrial septal defect, ostium secundum type
Synonyms:
Secundum atrial septal defect; ASD II
Identifiers:
MONDO: MONDO:0020434; MedGen: C0344724; Human Phenotype Ontology: HP:0001684
Name:
Mandibular prognathia
Synonyms:
Habsburg jaw; Hapsburg jaw
Identifiers:
MONDO: MONDO:0008312; MeSH: D008313; MedGen: C0399526; OMIM: 176700; Human Phenotype Ontology: HP:0000303
Name:
Broad forehead
Identifiers:
MedGen: C1849089; Human Phenotype Ontology: HP:0000337
Name:
Cyanosis
Identifiers:
MedGen: C0010520; Human Phenotype Ontology: HP:0000961
Name:
Premature birth
Identifiers:
MedGen: C0151526; Human Phenotype Ontology: HP:0001622
Name:
Shawl scrotum
Identifiers:
MedGen: C1858539; Human Phenotype Ontology: HP:0000049
Name:
Short neck
Identifiers:
MedGen: C0521525; Human Phenotype Ontology: HP:0000470
Name:
Short nose
Synonyms:
Nasal hypoplasia
Identifiers:
MedGen: C1854114; Human Phenotype Ontology: HP:0003196
Name:
Anterior synechiae of the anterior chamber
Synonyms:
Anterior synechiae
Identifiers:
MedGen: C0152252; Human Phenotype Ontology: HP:0011483
Name:
Square face
Identifiers:
MedGen: C1832127; Human Phenotype Ontology: HP:0000321
Name:
Long philtrum
Identifiers:
MedGen: C1865014; Human Phenotype Ontology: HP:0000343
Name:
Sclerocornea
Synonyms:
Sclerocornea (disease)
Identifiers:
MONDO: MONDO:0019629; MedGen: C1853235; Human Phenotype Ontology: HP:0000647
Name:
Pulmonary artery stenosis
Identifiers:
MedGen: C0238397; Human Phenotype Ontology: HP:0004415
Name:
Respiratory failure requiring assisted ventilation
Identifiers:
MedGen: C4025279; Human Phenotype Ontology: HP:0004887
Name:
Corneal opacity
Identifiers:
MedGen: C0010038; Human Phenotype Ontology: HP:0007957
Name:
Prominent forehead
Identifiers:
MedGen: C1837260; Human Phenotype Ontology: HP:0011220
Name:
Mild global developmental delay
Identifiers:
MedGen: C4012968; Human Phenotype Ontology: HP:0011342
Name:
Generalized opacification of the cornea
Identifiers:
MedGen: C4021147; Human Phenotype Ontology: HP:0011494
Name:
Chin with horizontal crease
Identifiers:
MedGen: C4023171; Human Phenotype Ontology: HP:0011823
Name:
Wide nasal base
Identifiers:
MedGen: C1849667; Human Phenotype Ontology: HP:0012810

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000320989Talkowski 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

Help

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, SCV000320989.1

#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: Jan 13, 2025