A new case of de novo translocation (12;17;18)(q21.2;q22;q21.1) and cranio-cerebello-cardiac (3C) syndrome

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Bibliographic Details
Published inAmerican journal of medical genetics. Part A Vol. 155A; no. 3; pp. 648 - 651
Main Authors Al-Achkar, Walid, Wafa, Abdulsamad, Jarjour, Rami A.
Format Journal Article
LanguageEnglish
Published Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.03.2011
Wiley-Liss
Subjects
Abnormalities, Multiple - diagnostic imaging
Abnormalities, Multiple - genetics
Biological and medical sciences
Brain - diagnostic imaging
Brain - pathology
Chromosome aberrations
Chromosomes, Human - genetics
Chromosomes, Human, Pair 12 - genetics
Chromosomes, Human, Pair 17 - genetics
Chromosomes, Human, Pair 18 - genetics
Craniofacial Abnormalities - diagnostic imaging
Craniofacial Abnormalities - genetics
Dandy-Walker Syndrome - diagnostic imaging
Dandy-Walker Syndrome - genetics
Facies
Fatal Outcome
Heart Septal Defects, Atrial - diagnostic imaging
Heart Septal Defects, Atrial - genetics
Humans
Infant
Karyotyping
Male
Medical genetics
Medical sciences
Tomography, X-Ray Computed
Translocation, Genetic
Chromosomal aberration
Heart
Case study
Abnormal chromosome
De novo
Chromosome translocation
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Bibliography:How to Cite this Article: Al-Achkar W, Wafa A, Jarjour RA. 2011. A new case of de novo translocation (12;17;18)(q21.2;q22;q21.1) and cranio-cerebello-cardiac (3C) syndrome. Am J Med Genet Part A 155:648-651.
ArticleID:AJMG33742
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How to Cite this Article: Al‐Achkar W, Wafa A, Jarjour RA. 2011. A new case of de novo translocation (12;17;18)(q21.2;q22;q21.1) and cranio‐cerebello‐cardiac (3C) syndrome. Am J Med Genet Part A 155:648–651.
ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
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ObjectType-Report-1
ObjectType-Article-3
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.33742