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46;XY;inv(6)(q22.2q27)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:
RCV000258573.1

Allele description [Variation Report for 46;XY;inv(6)(q22.2q27)dn]

46;XY;inv(6)(q22.2q27)dn

Variant type:
Inversion
Cytogenetic location:
6q22.2q27
Preferred name:
46;XY;inv(6)(q22.2q27)dn

Condition(s)

Name:
Hypertelorism
Identifiers:
MedGen: C0020534; OMIM: 145400; Human Phenotype Ontology: HP:0000316
Name:
Keloid formation
Identifiers:
MONDO: MONDO:0007847; MedGen: C3149494; OMIM: 148100
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:
Seizure
Synonyms:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250
Name:
Feeding difficulties
Identifiers:
MedGen: C0232466; Human Phenotype Ontology: HP:0011968
Name:
Vomiting
Identifiers:
MedGen: C0042963; Human Phenotype Ontology: HP:0002013
Name:
EEG abnormality
Synonyms:
EEG abnormalities; Electroencephalogram (EEG) abnormalities
Identifiers:
MedGen: C0151611; Human Phenotype Ontology: HP:0002353
Name:
Anteverted nares
Identifiers:
MedGen: C1840077; Human Phenotype Ontology: HP:0000463
Name:
Cafe-au-lait spot
Synonyms:
Café au Lait; Café-au-lait spot
Identifiers:
MedGen: C0221263; Human Phenotype Ontology: HP:0000957
Name:
Conductive hearing impairment
Synonyms:
Conductive hearing loss disorder
Identifiers:
MONDO: MONDO:0020679; MedGen: C0018777; Human Phenotype Ontology: HP:0000405
Name:
Decreased testicular size
Identifiers:
MedGen: C0241355; Human Phenotype Ontology: HP:0008734
Name:
Delayed speech and language development
Identifiers:
MedGen: C0454644; Human Phenotype Ontology: HP:0000750
Name:
Wide nasal bridge
Identifiers:
MedGen: C1849367; Human Phenotype Ontology: HP:0000431
Name:
Thin upper lip vermilion
Identifiers:
MedGen: C1865017; Human Phenotype Ontology: HP:0000219
Name:
Recurrent otitis media
Identifiers:
MedGen: C0747085; Human Phenotype Ontology: HP:0000403
Name:
Downturned corners of mouth
Identifiers:
MedGen: C1866195; Human Phenotype Ontology: HP:0002714
Name:
Clinodactyly of the 3rd toe
Identifiers:
MedGen: C4021555; Human Phenotype Ontology: HP:0008115
Name:
Finger clinodactyly
Identifiers:
MONDO: MONDO:0017461; MedGen: C0265610; Human Phenotype Ontology: HP:0040019
Name:
Small scrotum
Identifiers:
MedGen: C0455792; Human Phenotype Ontology: HP:0000046
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
SCV000320787Talkowski 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 (20)
[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

Cleft lip/palate, abnormal ears, ectrodactyly, congenital heart defect, and growth retardation: definition of the acro-cardio-facial syndrome.

Guion-Almeida ML, Zechi-Ceide RM, Richieri-Costa A.

Clin Dysmorphol. 2000 Oct;9(4):269-72. Review.

PubMed [citation]
PMID:
11045583

A new observation of acro-cardio-facial syndrome substantiates interindividual clinical variability.

Mingarelli R, Zuccarello D, Digilio MC, Dallapiccola B.

Am J Med Genet A. 2005 Jul 1;136(1):84-6. Review.

PubMed [citation]
PMID:
15937946
See all PubMed Citations (20)

Details of each submission

From Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital, SCV000320787.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (20)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 14, 2024