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46;XY;t(1;3)(p22;q21)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:
RCV000258555.2

Allele description [Variation Report for 46;XY;t(1;3)(p22;q21)dn]

46;XY;t(1;3)(p22;q21)dn

Variant type:
Translocation
Cytogenetic location:
1p22
Preferred name:
46;XY;t(1;3)(p22;q21)dn

Condition(s)

Name:
Epicanthus
Synonyms:
Epicanthal fold
Identifiers:
MedGen: C0678230; OMIM: 131500; Human Phenotype Ontology: HP:0000286
Name:
Corpus callosum, agenesis of
Synonyms:
Corpus callosum agenesis; Mental retardation hypoplastic corpus callosum preauricular tag; Da silva syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009022; MedGen: C0175754; Orphanet: 200; OMIM: 217990; Human Phenotype Ontology: HP:0001274
Name:
Esotropia
Identifiers:
MONDO: MONDO:0004896; MedGen: C0014877; Human Phenotype Ontology: HP:0000565
Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Hemihypertrophy
Identifiers:
MedGen: C0332890; Human Phenotype Ontology: HP:0001528
Name:
Inguinal hernia
Identifiers:
MedGen: C0019294; Human Phenotype Ontology: HP:0000023
Name:
Atypical behavior
Synonyms:
Behavioral abnormality
Identifiers:
MedGen: C0004941; Human Phenotype Ontology: HP:0000708
Name:
Scoliosis
Identifiers:
MONDO: MONDO:0005392; MedGen: C0036439; Human Phenotype Ontology: HP:0002650
Name:
Overgrowth
Identifiers:
MedGen: C1849265; Human Phenotype Ontology: HP:0001548
Name:
Unsteady gait
Identifiers:
MedGen: C0231686; Human Phenotype Ontology: HP:0002317
Name:
Abnormal facial shape
Synonyms:
Dysmorphic facies; Dysmorphic facial features
Identifiers:
MedGen: C0424503; Human Phenotype Ontology: HP:0001999
Name:
Poor head control
Identifiers:
MedGen: C1836038; Human Phenotype Ontology: HP:0002421
Name:
Hydrocephalus (HYC)
Identifiers:
MONDO: MONDO:0001150; MedGen: C0020255; Human Phenotype Ontology: HP:0000238
Name:
Facial asymmetry
Synonyms:
Asymmetric Face
Identifiers:
MedGen: C1306710; Human Phenotype Ontology: HP:0000324
Name:
Gait imbalance
Identifiers:
MedGen: C1836150; Human Phenotype Ontology: HP:0002141
Name:
Poor motor coordination
Identifiers:
MedGen: C1848453; Human Phenotype Ontology: HP:0002275
Name:
Chiari malformation
Synonyms:
Arnold-Chiari malformation
Identifiers:
MONDO: MONDO:0000115; MedGen: C0003803; Human Phenotype Ontology: HP:0002308
Name:
Cortical dysplasia
Identifiers:
MONDO: MONDO:0017094; MedGen: C0431380; Human Phenotype Ontology: HP:0002539
Name:
High, narrow palate
Identifiers:
MedGen: C1837404; Human Phenotype Ontology: HP:0002705
Name:
Increased mean corpuscular volume
Identifiers:
MedGen: C0302845; Human Phenotype Ontology: HP:0005518
Name:
Metopic synostosis
Identifiers:
MedGen: C1860819; Human Phenotype Ontology: HP:0011330
Name:
Heart murmur
Identifiers:
MedGen: C0018808; Human Phenotype Ontology: HP:0030148
Name:
Ventricular septal defect
Identifiers:
MONDO: MONDO:0002070; MedGen: C0018818; OMIM: PS614429; Human Phenotype Ontology: HP:0001629
Name:
Attention deficit hyperactivity disorder (ADHD)
Identifiers:
MONDO: MONDO:0007743; MedGen: C1263846; Human Phenotype Ontology: HP:0007018
Name:
Asthma
Identifiers:
MONDO: MONDO:0004979; MedGen: C0004096; Human Phenotype Ontology: HP:0002099

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000320810Talkowski 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, SCV000320810.1

#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: Sep 8, 2024