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46;XY;t(7;19)(q32;q13.1)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:
RCV000258581.2

Allele description [Variation Report for 46;XY;t(7;19)(q32;q13.1)dn]

46;XY;t(7;19)(q32;q13.1)dn

Variant type:
Translocation
Cytogenetic location:
19q13.1
Preferred name:
46;XY;t(7;19)(q32;q13.1)dn

Condition(s)

Name:
Epicanthus
Synonyms:
Epicanthal fold
Identifiers:
MedGen: C0678230; OMIM: 131500; Human Phenotype Ontology: HP:0000286
Name:
Ear malformation
Synonyms:
CUP EAR; Abnormality of the ear
Identifiers:
MONDO: MONDO:0007500; MedGen: C0266589; OMIM: 128600; Human Phenotype Ontology: HP:0000598
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:
Abnormal facial shape
Synonyms:
Dysmorphic facies; Dysmorphic facial features
Identifiers:
MedGen: C0424503; Human Phenotype Ontology: HP:0001999
Name:
Absent speech
Synonyms:
Absent speech development
Identifiers:
MedGen: C1854882; Human Phenotype Ontology: HP:0001344
Name:
Joint laxity
Identifiers:
MedGen: C0086437
Name:
Achalasia
Synonyms:
Esophageal achalasia; Primary achalasia; Achalasia of esophagus
Identifiers:
MONDO: MONDO:0008698; MedGen: C0014848; Human Phenotype Ontology: HP:0002571
Name:
Abnormal muscle tone
Identifiers:
MedGen: C0852413; Human Phenotype Ontology: HP:0003808
Name:
Hypoplasia of the frontal lobes
Identifiers:
MedGen: C1849172; Human Phenotype Ontology: HP:0007333
Name:
Abnormality of the gastrointestinal tract
Identifiers:
MONDO: MONDO:0004335; MedGen: C4023588; Human Phenotype Ontology: HP:0011024
Name:
EEG with abnormally slow frequencies
Identifiers:
MedGen: C4023471; Human Phenotype Ontology: HP:0011203
Name:
Prominent forehead
Identifiers:
MedGen: C1837260; Human Phenotype Ontology: HP:0011220
Name:
Delayed myelination
Identifiers:
MedGen: C1277241; Human Phenotype Ontology: HP:0012448

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000320775Talkowski 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 (4)
[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

Constitutional del(19)(q12q13.1) in a three-year-old girl with severe phenotypic abnormalities affecting multiple organ systems.

Kulharya AS, Michaelis RC, Norris KS, Taylor HA, Garcia-Heras J.

Am J Med Genet. 1998 Jun 5;77(5):391-4.

PubMed [citation]
PMID:
9632168

19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation.

Malan V, Raoul O, Firth HV, Royer G, Turleau C, Bernheim A, Willatt L, Munnich A, Vekemans M, Lyonnet S, Cormier-Daire V, Colleaux L.

J Med Genet. 2009 Sep;46(9):635-40. doi: 10.1136/jmg.2008.062034. Epub 2009 Jan 6.

PubMed [citation]
PMID:
19126570
See all PubMed Citations (4)

Details of each submission

From Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital, SCV000320775.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 12, 2024