Chitayat D, Kalousek D K, Bamforth J S
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Am J Med Genet. 1989 Jul;33(3):352-6. doi: 10.1002/ajmg.1320330313.
We studied the structure and number of lymph vessels in 12 spontaneously aborted previable fetuses with posterior cervical cystic hygroma and generalized edema of variable origin (monosomy X, trisomy 21, trisomy 13, suspected Noonan syndrome, and lethal multiple pterygium syndrome) and compared them to 5 therapeutically aborted, apparently normal fetuses. We found that in the non-45,X fetuses with cystic hygroma and edema the lymphatic vessels at all studied sites were dilated and appeared increased in number. The 45,X fetuses had no recognizable lymphatic vessels in the edematous cutaneous tissue of the limbs, and only occasional dilated vessels in the wall of the nuchal cystic hygroma and in the lungs. These findings may be useful in differentiating between monosomy X and other conditions causing nuchal cystic hygroma in specimens in which the fetus was incomplete and/or cytogenetic study could not be done.
我们研究了12例有颈后囊性水瘤和不同病因（X单体、21三体、13三体、疑似努南综合征和致死性多发性翼状胬肉综合征）的全身水肿的自然流产存活前胎儿的淋巴管结构和数量，并将其与5例治疗性流产的、外观正常的胎儿进行比较。我们发现，在患有囊性水瘤和水肿的非45,X胎儿中，所有研究部位的淋巴管均扩张且数量似乎增加。45,X胎儿在四肢水肿的皮肤组织中没有可识别的淋巴管，仅在颈部囊性水瘤壁和肺中偶尔有扩张的血管。这些发现可能有助于在胎儿不完整和/或无法进行细胞遗传学研究的标本中区分X单体和其他导致颈部囊性水瘤的情况。
