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46;XX;t(19;21)(q13.3;q22.3)dn AND multiple conditions

Germline classification:
Pathogenic (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:
RCV000258708.3

Allele description [Variation Report for 46;XX;t(19;21)(q13.3;q22.3)dn]

46;XX;t(19;21)(q13.3;q22.3)dn

Variant type:
Translocation
Cytogenetic location:
19q13.3
Preferred name:
46;XX;t(19;21)(q13.3;q22.3)dn

Condition(s)

Name:
Epicanthus
Synonyms:
Epicanthal fold
Identifiers:
MedGen: C0678230; OMIM: 131500; Human Phenotype Ontology: HP:0000286
Name:
Pectus excavatum
Synonyms:
funnel chest
Identifiers:
MONDO: MONDO:0008213; MedGen: C2051831; OMIM: 169300; Human Phenotype Ontology: HP:0000767
Name:
Pulmonic stenosis
Synonyms:
Pulmonic stenosis (disease)
Identifiers:
MONDO: MONDO:0009938; MedGen: C1956257; Orphanet: 3189; OMIM: 265500; Human Phenotype Ontology: HP:0001642
Name:
Motor delay
Synonyms:
Motor retardation; motor developmental delay
Identifiers:
MedGen: C1854301; Human Phenotype Ontology: HP:0001270
Name:
Autistic behavior
Identifiers:
MedGen: C0856975; Human Phenotype Ontology: HP:0000729
Name:
Constipation
Synonyms:
Constipation disorder
Identifiers:
MONDO: MONDO:0002203; MedGen: C0009806; Human Phenotype Ontology: HP:0002019
Name:
Hypertonia
Identifiers:
MedGen: C0026826; Human Phenotype Ontology: HP:0001276
Name:
Ptosis
Synonyms:
Ptosis (disease)
Identifiers:
MONDO: MONDO:0000728; MedGen: C0005745; Human Phenotype Ontology: HP:0000508
Name:
Hypermetropia
Synonyms:
Hyperopia
Identifiers:
MONDO: MONDO:0004891; MedGen: C0020490; Human Phenotype Ontology: HP:0000540
Name:
Macrotia
Identifiers:
MedGen: C0152421; Human Phenotype Ontology: HP:0000400
Name:
Abnormal facial shape
Synonyms:
Dysmorphic facies; Dysmorphic facial features
Identifiers:
MedGen: C0424503; Human Phenotype Ontology: HP:0001999
Name:
Delayed speech and language development
Identifiers:
MedGen: C0454644; Human Phenotype Ontology: HP:0000750
Name:
Prominent nose
Identifiers:
MedGen: C0426415; Human Phenotype Ontology: HP:0000448
Name:
Specific learning disability
Identifiers:
MONDO: MONDO:0016225; MedGen: C4025790; Human Phenotype Ontology: HP:0001328
Name:
Thin upper lip vermilion
Identifiers:
MedGen: C1865017; Human Phenotype Ontology: HP:0000219
Name:
Microcephaly
Synonyms:
Microcephaly (disease)
Identifiers:
MONDO: MONDO:0001149; MedGen: C4551563; Human Phenotype Ontology: HP:0000252
Name:
Overfolded helix
Identifiers:
MedGen: C1837731; Human Phenotype Ontology: HP:0000396
Name:
Recurrent otitis media
Identifiers:
MedGen: C0747085; Human Phenotype Ontology: HP:0000403
Name:
Prominent nasal bridge
Identifiers:
MedGen: C1854113; Human Phenotype Ontology: HP:0000426
Name:
Delayed closure of the anterior fontanelle
Identifiers:
MedGen: C3840083; Human Phenotype Ontology: HP:0001476
Name:
Broad foot
Identifiers:
MedGen: C1866241; Human Phenotype Ontology: HP:0001769
Name:
Dyscalculia
Synonyms:
Dyscalculia (disease)
Identifiers:
MONDO: MONDO:0001552; MedGen: C0869474; Human Phenotype Ontology: HP:0002442
Name:
Finger syndactyly
Identifiers:
MedGen: C0221352; Human Phenotype Ontology: HP:0006101

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000320982Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital
criteria provided, single submitter

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

PubMed (10)
[See all records that cite these PMIDs]

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

Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly.

van Bon BW, Hoischen A, Hehir-Kwa J, de Brouwer AP, Ruivenkamp C, Gijsbers AC, Marcelis CL, de Leeuw N, Veltman JA, Brunner HG, de Vries BB.

Clin Genet. 2011 Mar;79(3):296-9. doi: 10.1111/j.1399-0004.2010.01544.x. No abstract available.

PubMed [citation]
PMID:
21294719

The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.

Courcet JB, Faivre L, Malzac P, Masurel-Paulet A, Lopez E, Callier P, Lambert L, Lemesle M, Thevenon J, Gigot N, Duplomb L, Ragon C, Marle N, Mosca-Boidron AL, Huet F, Philippe C, Moncla A, Thauvin-Robinet C.

J Med Genet. 2012 Dec;49(12):731-6. doi: 10.1136/jmedgenet-2012-101251. Epub 2012 Oct 25.

PubMed [citation]
PMID:
23099646
See all PubMed Citations (10)

Details of each submission

From Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital, SCV000320982.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (10)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 5, 2024