Prenatal Diagnosis of a Case of Partial Monosomy^|^frasl;Monosomy 13 Mosaicism: 46,XX,r(13)(p11q33)^|^frasl;45,XX,-13 Suspected by Nuchal Fold Translucency Increasing
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- KATAOKA AKIO
- Clinic of Obstetrics and Gynecology, Kataoka Ladies Clinic
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- HIRAKAWA SHOUKO
- Clinic of Obstetrics and Gynecology, Kataoka Ladies Clinic
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- IWAMOTO MANAMI
- Clinic of Obstetrics and Gynecology, Kataoka Ladies Clinic
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- SAKUMURA YUMI
- Clinic of Obstetrics and Gynecology, Kataoka Ladies Clinic
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- YOSHINAGA RYOUTA
- Clinic of Obstetrics and Gynecology, Kataoka Ladies Clinic
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- OHBA TAKASHI
- Department of Obstetrics and Gynecology, Kumamoto University
書誌事項
- タイトル別名
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- Prenatal Diagnosis of a Case of Partial Monosomy⁄Monosomy 13 Mosaicism: 46,XX,r(13)(p11q33)⁄45,XX,-13 Suspected by Nuchal Fold Translucency Increasing
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説明
Large numbers of patients with deletions of the long arm of chromosome 13 have been described. However, only a few instances have been reported of monosomy 13 ⁄ r(13) mosaicism. A 31-year-old Japanese woman underwent an ultrasound tomographic screening, which detected a fetus with a nuchal translucency (NT) of ›5.8mm, indicating an increased risk of fetal chromosomal abnormality. An amniocentesis (AC) was performed, and the karyotype was 46,XX,r(13)(p11q33)[18] ⁄ 45XX[12]. Ultrasound showed echogenic skin edema. Phenotype of the fetus after delivery revealed some anomalies, including hyponasal bridge, hypertelorism, ambiguous genitalia with huge clitoris, low-set ear, neck edema and webbing.<BR>Deletion of the long arm of chromosome 13 is associated with a wide spectrum of abnormalities, including retinoblastoma, mental and growth retardation, brain malformations, heart defects, distal limb deformities, and digestive, urogenital, and other abnormalities. The present case, however, had anomalies which were too faint to be detected by ultrasound tomography. Prenatal diagnosis of deletion 13q syndrome is rare. A number of reports have documented an association between increased NT and chromosomal defects. Ultrasound did not identify any major anomaly in this case, however amniocentesis was able to detect this rare abnormality.
収録刊行物
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- Ｔｈｅ Ｋｕｒｕｍｅ Ｍｅｄｉｃａｌ Ｊｏｕｒｎａｌ
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Ｔｈｅ Ｋｕｒｕｍｅ Ｍｅｄｉｃａｌ Ｊｏｕｒｎａｌ 58 (4), 127-130, 2011
久留米大学医学部 The Kurume Medical Journal 編集部