• 作者：Elisabet Lloveras ; Alberto Plaja
• 关键词：Heteromorfismos ; Marcadores cromosó ; micos ; Peque&ntilde ; os cromosomas marcadores
• 刊名：Diagn¨®stico Prenatal
• 出版年：2013
• 出版时间：July-September, 2013
• 年：2013
• 卷：24
• 期：3
• 页码：117-125
• 全文大小：2250 K

Introduction

Many chromosome reorganizations compatible with a normal phenotype are known, mainly some marker chromosomes with no genetically relevant content or chromosomal heteromorphisms.

Material and methods

Retrospective study of 20,098 prenatal cases.

Results

We detected 24/17,784 cases (0.13 % ) of small marker chromosomes (SMCs) in amniotic fluid, 8/2223 (0.36 % ) in chorionic villus, and 31/20,007 (0.15 % ) structural reorganizations classified as heteromorphisms.

Conclusions

Clinical practice guidelines are proposed based on our experience and the literature.