口唇口蓋裂を伴った第７染色体異常の１例

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  • A case of cleft lip and palate in a patient with partial monosomy 7 (q36.3.RAR.qter).

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The case of a female infant with an unusual chromosome 7 associated with cleft lip and palate is reported. The patient was the first child of nonconsanguineous healthy parents and was born when her father was 37 years old and her mother was 30 years old. The family history was unremarkable. Delivery was induced at 40 weeks after an uneventful pregnancy. Abnormal findings were cleft lip and palate, a bulbous nose, ocular hypertelorism, abnormal skull shape and long eyebrows. Chromosome analysis showed her karyotype to be 46, XX, -7, +der (7), t (Y:7)(q11.2:q36.3)

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