Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: genotype-phenotype correlation and literature review
| Autor: | Valentina Ronga, Rita Genesio, Maria Pia Riccio, Antonella Izzo, Lucio Nitsch, Alberto Casertano, Generoso Andria, Daniela Melis, Mariacarolina Salerno, Carmela Bravaccio, Gerarda Cappuccio |
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| Přispěvatelé: | Cappuccio, G, Genesio, R, Ronga, V, Casertano, A, Izzo, A, Riccio, Mp, Bravaccio, C, Salerno, M, Nitsch, L, Andria, G, Melis, D. |
| Rok vydání: | 2013 |
| Předmět: |
Pathology
medicine.medical_specialty Microcephaly Cornelia de Lange Syndrome Langer-Giedion Syndrome Chromosomal translocation Biology Short stature Translocation Genetic Langer–Giedion syndrome Genetics medicine Humans Genetics (clinical) Septum pellucidum Genetic Association Studies In Situ Hybridization Fluorescence Comparative Genomic Hybridization Facies medicine.disease Chromosome Banding chromosomal abnormalities Pituitary Gland Hypoplasia Phenotype Agenesis Child Preschool Female medicine.symptom |
| Zdroj: | American journal of medical genetics. Part A. (3) |
| ISSN: | 1552-4833 |
| Popis: | 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, osteoporosis), central nervous system malformations (hypoplastic and dysmorphic corpus callosum and septum pellucidum), pituitary gland hypoplasia and hyperreninemia. Array-CGH revealed complex chromosomal rearrangements. A diagnosis of LGS was confirmed by the detection of a 8q23.3-q24.1 deletion. Associated chromosomal abnormalities were a 21q22.1 deletion and a balanced reciprocal translocation t(2;11)(p24;p15) de novo, confirmed by FISH analysis. We document the patient's atypical findings, never described in LGS patients, in order to update the genotype-phenotype correlation. We speculate that the disruption of regulatory elements mapping upstream CYP11B2 involved in the deleted region could cause hyperreninemia. |
| Databáze: | OpenAIRE |
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