Habecker-Green J G, Naeem R, Gold H, O'Grady J P, Kanaan C, Bayer-Zwirello L, Murray M S, Cohn G M
Department of OB/GYN, Baystate Medical Center, Springfield, MA 01199, USA.
J Perinatol. 1998 Sep-Oct;18(5):395-8.
Prenatal diagnosis and clinical follow up of a patient with mosaicism for anomalies of chromosome 18 are reported. The fetus appeared on ultrasound to have multiple anomalies, including clubbed feet, abnormal hand positioning, edema of the scalp, cleft palate, and polyhydramnios. The karyotype on amniocytes was 47,XY,+i(18p). Postnatally, the peripheral blood karyotype was 46,XY,+i(18q), whereas the skin fibroblast karyotype was 47,XY,+i(18p). The infant had many features consistent with those previously described in cases of tetrasomy 18p and some that were consistent with trisomy 18q.
本文报道了一名18号染色体异常嵌合体患者的产前诊断及临床随访情况。超声检查发现胎儿存在多种异常，包括足内翻、手部姿势异常、头皮水肿、腭裂和羊水过多。羊水细胞的核型为47,XY,+i(18p)。出生后，外周血核型为46,XY,+i(18q)，而皮肤成纤维细胞核型为47,XY,+i(18p)。该婴儿具有许多与先前报道的18p四体病例一致的特征，也有一些与18q三体病例一致的特征。
