Faye O, Azza S, Adil B, Doudou D, Berthé M A, Ndiaye M, Afoutou J M, Touré C T, Anthonioz Ph
Laboratoire d'Histologie-Embryologie-Cytogénétique, Faculté de Médecine-UCAD, Dakar, Senegal.
Dakar Med. 2007;52(3):204-8.
The Barr chromatin test is a medical cytogenetic test, very quick to make, consisting in determination of the percentage of Barr corpuscles that correspond to the condensation of the second X chromosome in female epithelial cells of mammal, which range between 20 and 50% the percentage of Barr corpuscles in male epithelial cells range between 2 and less than 5%). In the less developed countries where caryotype isn't realized, this test can give invaluable informations about individual sex. The aim of this study was to show the Barr chromatin test interest in the sexual ambiguity diagnosis orientation in some cases of these sexual ambiguities.
To carry this study, we have done a Guard coloration on nude nucleus of epithelial cells taken on the cheeck internal side of our patient, a 19 years old woman that a gynaecologist had sent to us for sexual ambiguity. We have examinated the nude nucleus.
None of the nude nucleus had showed a Barr corpuscle (0% of Barr corpuscles, corresponding to male chromatin sex).
This rate has gived us a Morris syndrome diagnosis orientation; the diagnosis was confirmed later by the surgery and by the removal histological study. When caryotype or molecular biology are not available, the Barr chromatin test can represent a substitute biological test that can contribute to some sexual ambiguity diagnosis.
巴氏染色质检测是一种医学细胞遗传学检测，操作非常迅速，其内容是测定哺乳动物雌性上皮细胞中与第二条X染色体浓缩相对应的巴氏小体的百分比（该百分比在20%至50%之间），而雄性上皮细胞中巴氏小体的百分比在2%至小于5%之间。在未进行核型分析的欠发达国家，这项检测可为个体性别提供极为重要的信息。本研究的目的是展示巴氏染色质检测在某些性发育异常病例的性发育异常诊断导向中的作用。
为开展本研究，我们对从一名19岁女性患者脸颊内侧采集的上皮细胞裸核进行了吉姆萨染色，该患者因性发育异常被妇科医生转诊至我们这里。我们对裸核进行了检查。
所有裸核均未显示巴氏小体（巴氏小体比例为0%，对应男性染色质性别）。
这一比例为我们提供了莫里斯综合征的诊断导向；随后通过手术及切除组织学研究证实了该诊断。当无法进行核型分析或分子生物学检测时，巴氏染色质检测可作为一种替代性生物学检测，有助于某些性发育异常的诊断。
