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Identical deletion at 14q13.3 including PAX9 and NKX2-1 in siblings from mosaicism of unaffected parent
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نویسنده
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Hayashi Shin ,Yagi Mariko ,Morisaki Ichijiro ,Inazawa Johji
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منبع
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journal of human genetics - 2015 - دوره : 60 - شماره : 4 - صفحه:203 -206
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چکیده
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By screening patients with undiagnosed multiple congenital anomalies and intellectual disability using array-comparative genomic hybridization, we identified an 884 kb heterozygous microdeletion at 14q13.3 in two siblings presenting with oligodontia, hypothyroidism and persistent pulmonary hypertension of the newborn, resulting from their parental gonosomal mosaicism. among the six genes included in the deletion, haploinsufficiency of pax9 and nkx2-1 was probably associated with their phenotypes. these results highlighted a possibility of recurrence of pathogenic copy-number variants associated with parental mosaicism, which requires careful genetic counseling.
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آدرس
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Tokyo Medical and Dental University, Department of Molecular Cytogenetics, Japan, Nikoniko House Medical and Welfare Center, Department of Pediatrics, Japan, Osaka University Dental Hospital, Division of Special Care Dentistry, Japan, Tokyo Medical and Dental University, Department of Molecular Cytogenetics, Japan
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Authors
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