Cytogenetics, London Health Sciences Centre, University of Western Ontario, London, Ontario, Canada.
Prenat Diagn. 2010 Sep;30(9):839-44. doi: 10.1002/pd.2565.
(1) To present a case with prenatally detected idic Yp. (2) To review literature to assess if there is a correlation between the proportion of amniocytes with idic Yp and phenotypic sex.
Seventeen cases were reviewed.
Amniocentesis was done due to positive integrated prenatal screening result. Interphase FISH was normal for chromosomes 13, 18, and 21, but mosaic for cell lines with 1 X and 0 to 2 copies of DYZ3, SRY, or DYZ1(Yq12). Amniocytes had 45,X[28]/46,X,idic(Y)(q11.2)[2].ish idic(Y)(DYZ3 + +, SRY + +). An apparently normal female was born at 37 weeks. The umbilical cord had 45,X[50], but cord blood had 45,X[17]/46,X,idic(Y)[31]/47,X,idic(Y)x2[2]. Review of 17 cases showed that 13 cases with 20 to 100% cells with idic Yp all had a male phenotype. Two cases with 3 and 7% of idic Yp cells had a female phenotype. Two cases with 45,X only at prenatal diagnosis but idic Yp detected postnatally were phenotypic male.
(1) We present the first report of prenatally detected idic Yp and Yq12 resulting in an apparently normal female at birth. (2) Finding of > 20% of G-banded amniocytes with idic Yp in the absence of other indicators of foetal structural anomalies seems to correlate with phenotypically normal male in most cases.
(1) 报道一例产前检出的idic Yp。(2) 回顾文献，评估带idic Yp 的羊水细胞比例与表型性别之间是否存在相关性。
对 17 例病例进行了回顾性分析。
由于综合产前筛查阳性，行羊膜穿刺术。间期 FISH 显示 13、18 和 21 号染色体正常，但细胞系呈嵌合体，1X 和 0 至 2 个 DYZ3、SRY 或 DYZ1(Yq12)拷贝。羊水细胞为 45,X[28]/46,X,idic(Y)(q11.2)[2]。ish idic(Y)(DYZ3 + +, SRY + +)。一名外观正常的女性在 37 周时出生。脐带为 45,X[50]，但脐带血为 45,X[17]/46,X,idic(Y)[31]/47,X,idic(Y)x2[2]。对 17 例病例的回顾显示，13 例有 20%至 100%带idic Yp 的细胞均表现为男性表型。2 例有 3%和 7%的带idic Yp 细胞表现为女性表型。2 例仅在产前诊断为 45,X，但产后检出idic Yp 的病例表现为男性表型。
(1) 我们首次报道了产前检出的idic Yp 和 Yq12 导致出生时外观正常的女性。(2) 在没有其他胎儿结构异常指标的情况下，发现>20%的 G 带羊水细胞带有idic Yp，似乎与大多数情况下表型正常的男性相关。
