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46;XX;t(1;2)(q42.3;q24.2)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:
RCV000258556.1

Allele description [Variation Report for 46;XX;t(1;2)(q42.3;q24.2)dn]

46;XX;t(1;2)(q42.3;q24.2)dn

Variant type:
Translocation
Cytogenetic location:
1q42.3
Preferred name:
46;XX;t(1;2)(q42.3;q24.2)dn

Condition(s)

Name:
Inversion of nipple
Synonyms:
MAMMILLAE INVERTITAE; Nipples inverted
Identifiers:
MONDO: MONDO:0008100; MedGen: C0269269; OMIM: 163600; Human Phenotype Ontology: HP:0003186
Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Short stature
Identifiers:
MedGen: C0349588; Human Phenotype Ontology: HP:0004322
Name:
Failure to thrive
Synonyms:
Pediatric failure to thrive
Identifiers:
MedGen: C2315100; Human Phenotype Ontology: HP:0001508
Name:
Abnormal facial shape
Synonyms:
Dysmorphic facies; Dysmorphic facial features
Identifiers:
MedGen: C0424503; Human Phenotype Ontology: HP:0001999
Name:
Agenesis of permanent teeth
Synonyms:
Anodontia of permanent dentition
Identifiers:
MedGen: C1290511; OMIM: 206780; Human Phenotype Ontology: HP:0006349
Name:
Cafe-au-lait spot
Synonyms:
Café au Lait; Café-au-lait spot
Identifiers:
MedGen: C0221263; Human Phenotype Ontology: HP:0000957
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:
Numerous nevi
Identifiers:
MedGen: C1849677; Human Phenotype Ontology: HP:0001054
Name:
Decreased body weight
Identifiers:
MedGen: C5574742; Human Phenotype Ontology: HP:0004325
Name:
Attached earlobe
Identifiers:
MedGen: C4021375; Human Phenotype Ontology: HP:0009907
Name:
Prominent digit pad
Identifiers:
MedGen: C4023424; Human Phenotype Ontology: HP:0011298
Name:
Hypotonia
Synonyms:
Muscular hypotonia; poor muscle tone
Identifiers:
MedGen: C0026827; Human Phenotype Ontology: HP:0001252

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000320873Talkowski 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, SCV000320873.1

#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: Aug 13, 2023