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Article

Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: genotype-phenotype correlation and literature review.

American journal of medical genetics. Part A - 1 Mar 2014

Cappuccio Gerarda, Genesio Rita, Ronga Valentina, Casertano Alberto, Izzo Antonella, Riccio Maria Pia, Bravaccio Carmela, Salerno Maria Carolina, Nitsch Lucio, Andria Generoso, Melis Daniela

Abstract excerpt

Langer-Giedion syndrome (LGS) is caused by a deletion of chromosome 8q23.3-q24.11. The LGS clinical spectrum includes intellectual disability (ID), short stature, microcephaly, facial dysmorphisms, exostoses. We describe a 4-year-old girl with ID, short stature, microcephaly, distinctive facial phenotype, skeletal signs (exostoses on the left fibula, coccyx agenesis, stubby and dysmorphic sphenoid bone,...

Topics

Child, Preschool
Chromosome Banding
Comparative Genomic Hybridization
Facies
Female
Genetic Association Studies
Humans
In Situ Hybridization, Fluorescence
Langer-Giedion Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Translocation, Genetic

Source

Identifiers

PMID: 24357330
DOI: 10.1002/ajmg.a.36326

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