Clinical phenotype comparisons between our patient and the previous cases with gain of one copy at band 14q22q23.1 that include OTX2 gene | ||||||||||||||
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Our patient | Ballesta-Martínez MJ, 2013PMID: 23794319 | Zielinski D, 2014PMID: 24816892 | Ehrenberg M,2019PMID: 31814694 | |||||||||||
Family relationship | Index case | Index case | Father | Uncle | Cousin | Cousin´s son | Cousin´s daughter | Maternal grand-mother | Maternal great-uncle | Mother | Brother | index case | Indexcase | Father |
Facial asymmetry | + | + | + | - | - | + | + | + | + | + | + | + | + | + |
Facial cleft | - | + | + | - | - | + | - | + | + | + | + | + | - | ND |
Temporo-mandibular joint abnormality | + | + | - | - | ND | ND | ND | + | + | + | + | + | - | ND |
Ear constriction/cleft/microtia | + | + | - | - | - | + | + | - | - | - | - | + | + | ND |
Auricular pits | - | + | - | - | - | + | + | ND | ND | ND | ND | ND | - | ND |
Pre- or post-auricular tags | + | + | + | + | + | + | + | + | - | + | + | + | - | ND |
Stenoticnarrow ear canals | + | + | - | ND | ND | + | + | ND | ND | ND | ND | ND | - | ND |
Abnormal palate | - | - | - | - | - | - | - | ND | ND | ND | ND | ND | - | ND |
Micrognathia | + | + | - | - | - | - | - | - | + | - | + | + | + | ND |
Hearing loss | + | + | - | - | ND | - | - | ND | ND | ND | ND | ND | + | ND |