Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review
| Autor: | Mihai Ioana, Claudia Jurca, Katalin Szakszon, Ariana Szilagyi, Anikó Ujfalusi, Cristian Sava, Marius Bembea, Kinga Kozma, Simona Sosoi, Andrei Pirvu, Codruța Diana Petchesi, Alexandru Daniel Jurcă, Ioana Streața, Zsuzsanna Szűcs |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Male
Karyotype Greig cephalopolysyndactyly Nerve Tissue Proteins Case Report Biology deletion 7p QH426-470 Contiguous gene syndrome Genotype-phenotype distinction Zinc Finger Protein Gli3 GLI3 medicine Genetics Humans Hypertelorism Genetics (clinical) Greig cephalopolysyndactyly syndrome Comparative Genomic Hybridization Macrocephaly Genetic disorder Acrocephalosyndactylia medicine.disease structural chromosomal anomalies Greig cephalopolysyndactyly contiguous gene syndrome Polysyndactyly Child Preschool array-CGH Chromosome Deletion medicine.symptom Chromosomes Human Pair 7 |
| Zdroj: | Genes, Vol 12, Iss 1674, p 1674 (2021) Genes |
| ISSN: | 2073-4425 |
| Popis: | Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic disorder (about 200 cases reported), characterized by macrocephaly, hypertelorism, and polysyndactyly. Most of the reported GCPS cases are the results of heterozygous loss of function mutations affecting the GLI3 gene (OMIM# 175700), while a small proportion of cases arise from large deletions on chromosome 7p14 encompassing the GLI3 gene. To our knowledge, only 6 patients have been reported to have a deletion with an exact size (given by genomic coordinates) and a gene content larger than 1 Mb involving the GLI3 gene. This report presents a patient with Greig cephalopolysyndactyly contiguous gene syndrome (GCP-CGS) diagnosed with a large, 18 Mb deletion on chromosome 7p14.2-p11.2. Similar cases are reviewed in the literature for a more accurate comparison between genotype and phenotype. |
| Databáze: | OpenAIRE |
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