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46;XY;t(8;10)(q13;p13)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:
RCV000258522.1

Allele description [Variation Report for 46;XY;t(8;10)(q13;p13)dn]

46;XY;t(8;10)(q13;p13)dn

Variant type:
Translocation
Cytogenetic location:
10p13
Preferred name:
46;XY;t(8;10)(q13;p13)dn

Condition(s)

Name:
Hypertelorism
Identifiers:
MedGen: C0020534; OMIM: 145400; Human Phenotype Ontology: HP:0000316
Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Autistic behavior
Identifiers:
MedGen: C0856975; Human Phenotype Ontology: HP:0000729
Name:
Micrognathia
Identifiers:
MedGen: C0025990; Human Phenotype Ontology: HP:0000347
Name:
Short phalanx of finger
Identifiers:
MedGen: C0877165; Human Phenotype Ontology: HP:0009803
Name:
Growth delay
Synonyms:
Growth Retardation
Identifiers:
MedGen: C0456070; Human Phenotype Ontology: HP:0001510
Name:
Low-set ears
Identifiers:
MedGen: C0239234; Human Phenotype Ontology: HP:0000369
Name:
2-3 toe syndactyly
Identifiers:
MedGen: C4551570; Human Phenotype Ontology: HP:0004691
Name:
Absent speech
Synonyms:
Absent speech development
Identifiers:
MedGen: C1854882; Human Phenotype Ontology: HP:0001344
Name:
Single transverse palmar crease
Identifiers:
MedGen: C0424731; Human Phenotype Ontology: HP:0000954
Name:
Short toe
Identifiers:
MedGen: C1836195; Human Phenotype Ontology: HP:0001831
Name:
Somatic sensory dysfunction
Synonyms:
Sensory impairment
Identifiers:
MedGen: C5551413; Human Phenotype Ontology: HP:0003474
Name:
Bilateral conductive hearing impairment
Identifiers:
MedGen: C0452136; Human Phenotype Ontology: HP:0008513
Name:
Attention deficit hyperactivity disorder (ADHD)
Identifiers:
MONDO: MONDO:0007743; MedGen: C1263846; Human Phenotype Ontology: HP:0007018

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000320797Talkowski 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 (12)
[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

Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization.

DeScipio C, Conlin L, Rosenfeld J, Tepperberg J, Pasion R, Patel A, McDonald MT, Aradhya S, Ho D, Goldstein J, McGuire M, Mulchandani S, Medne L, Rupps R, Serrano AH, Thorland EC, Tsai AC, Hilhorst-Hofstee Y, Ruivenkamp CA, Van Esch H, Addor MC, Martinet D, et al.

Am J Med Genet A. 2012 Sep;158A(9):2152-61. doi: 10.1002/ajmg.a.35574. Epub 2012 Jul 27.

PubMed [citation]
PMID:
22847950
PMCID:
PMC3429713

Severe clinical presentation in monozygotic twins with 10p15.3 microdeletion syndrome.

Vargiami E, Ververi A, Kyriazi M, Papathanasiou E, Gioula G, Gerou S, Al-Mutawa H, Kambouris M, Zafeiriou DI.

Am J Med Genet A. 2014 Mar;164A(3):764-8. doi: 10.1002/ajmg.a.36329. Epub 2013 Dec 19.

PubMed [citation]
PMID:
24357427
See all PubMed Citations (12)

Details of each submission

From Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital, SCV000320797.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (12)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024