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 A. 2011 Mar;155A(3):648-51. doi: 10.1002/ajmg.a.33742. Epub 2011 Feb 18.

Authors

Walid Al-Achkar¹, Abdulsamad Wafa, Rami A Jarjour

Affiliation

¹ Human Genetics Division, Molecular Biology and Biotechnology Department, Atomic Energy Commission of Syria, Damascus, Syria. scientific@aec.org.sy

PMID: 21337688
DOI: 10.1002/ajmg.a.33742

No abstract available

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / diagnostic imaging
Abnormalities, Multiple / genetics
Brain / diagnostic imaging
Brain / pathology
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
Tomography, X-Ray Computed
Translocation, Genetic*

Supplementary concepts

3C syndrome