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46;XX;t(3;12)(q13.2;q14)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:
RCV000258781.2

Allele description [Variation Report for 46;XX;t(3;12)(q13.2;q14)dn]

46;XX;t(3;12)(q13.2;q14)dn

Variant type:
Translocation
Cytogenetic location:
12q14
Preferred name:
46;XX;t(3;12)(q13.2;q14)dn

Condition(s)

Name:
Epicanthus
Synonyms:
Epicanthal fold
Identifiers:
MedGen: C0678230; OMIM: 131500; Human Phenotype Ontology: HP:0000286
Name:
Craniosynostosis syndrome
Synonyms:
Craniosynostosis
Identifiers:
MONDO: MONDO:0015469; MeSH: D003398; MedGen: C0010278; OMIM: PS123100; Human Phenotype Ontology: HP:0001363
Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Growth delay
Synonyms:
Growth Retardation
Identifiers:
MedGen: C0456070; Human Phenotype Ontology: HP:0001510
Name:
Abnormal facial shape
Synonyms:
Dysmorphic facies; Dysmorphic facial features
Identifiers:
MedGen: C0424503; Human Phenotype Ontology: HP:0001999
Name:
Broad thumb
Identifiers:
MedGen: C0426891; Human Phenotype Ontology: HP:0011304
Name:
Cafe-au-lait spot
Synonyms:
Café au Lait; Café-au-lait spot
Identifiers:
MedGen: C0221263; Human Phenotype Ontology: HP:0000957
Name:
Depressed nasal bridge
Synonyms:
Flattened nasal bridge; Flat nasal bridge; low nasal bridge
Identifiers:
MedGen: C1836542; Human Phenotype Ontology: HP:0005280
Name:
Overlapping toe
Identifiers:
MedGen: C0920299; Human Phenotype Ontology: HP:0001845
Name:
Short philtrum
Identifiers:
MedGen: C1861324; Human Phenotype Ontology: HP:0000322
Name:
Hypoplastic labia majora
Identifiers:
MedGen: C0566899; Human Phenotype Ontology: HP:0000059
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:
Strabismus
Identifiers:
MONDO: MONDO:0003432; MedGen: C0038379; Human Phenotype Ontology: HP:0000486
Name:
Accelerated skeletal maturation
Identifiers:
MedGen: C0545053; Human Phenotype Ontology: HP:0005616
Name:
Multiple palmar creases
Identifiers:
MedGen: C1861872; Human Phenotype Ontology: HP:0006114
Name:
Broad hallux phalanx
Identifiers:
MedGen: C4021343; Human Phenotype Ontology: HP:0010059

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000320769Talkowski 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 (6)
[See all records that cite these PMIDs]

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

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.

Lamb AN, Rosenfeld JA, Neill NJ, Talkowski ME, Blumenthal I, Girirajan S, Keelean-Fuller D, Fan Z, Pouncey J, Stevens C, Mackay-Loder L, Terespolsky D, Bader PI, Rosenbaum K, Vallee SE, Moeschler JB, Ladda R, Sell S, Martin J, Ryan S, Jones MC, Moran R, et al.

Hum Mutat. 2012 Apr;33(4):728-40. doi: 10.1002/humu.22037.

PubMed [citation]
PMID:
22290657
PMCID:
PMC3618980

Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability.

Schanze I, Schanze D, Bacino CA, Douzgou S, Kerr B, Zenker M.

Eur J Med Genet. 2013 Feb;56(2):108-13. doi: 10.1016/j.ejmg.2012.11.001. Epub 2012 Dec 5.

PubMed [citation]
PMID:
23220431
See all PubMed Citations (6)

Details of each submission

From Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital, SCV000320769.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (6)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 26, 2024