Pletcher B A, Sanz M M, Schlessel J S, Kunaporn S, McKenna C, Bialer M G, Alonso M L, Zaslav A L, Brown W T, Ray J H
Division of Child Development and Human Genetics, North Shore University Hospital-Cornell University Medical College, Manhasset, NY 11030.
Prenat Diagn. 1994 Oct;14(10):933-40. doi: 10.1002/pd.1970141007.
Two phenotypically abnormal liveborns in whom trisomy 16 mosaicism was diagnosed prenatally by amniocentesis are described. Analysis of a percutaneous umbilical blood sample in one case revealed a normal chromosomal complement. Ultrasound examinations performed at the time of amniocentesis were normal. Serial sonography during the late second and third trimesters demonstrated progressive intrauterine growth retardation (IUGR) in both fetuses and a cardiac defect in one. At birth, both infants had dysmorphic features and multiple congenital anomalies. Trisomy 16 mosaicism was confirmed postnatally in both infants in skin fibroblasts; however, peripheral blood samples contained only chromosomally normal cells. The two mosaic trisomy 16 cases described in this report, together with the five confirmed cases reported previously, demonstrate the need for caution in the counselling of patients when trisomy 16 mosaicism is diagnosed prenatally in amniotic fluid samples. Such cases potentially can result in the birth of dysmorphic infants with significant birth defects, growth retardation, and possible developmental disabilities.
本文描述了两名表型异常的活产儿，他们在产前通过羊膜穿刺术被诊断为16三体嵌合体。其中一例经皮脐血样本分析显示染色体组正常。羊膜穿刺术时进行的超声检查正常。孕晚期和孕晚期的系列超声检查显示，两个胎儿均有进行性宫内生长受限（IUGR），其中一个有心脏缺陷。出生时，两名婴儿均有畸形特征和多种先天性异常。两名婴儿出生后皮肤成纤维细胞均证实存在16三体嵌合体；然而，外周血样本仅包含染色体正常的细胞。本报告中描述的这两例16三体嵌合体病例，与之前报告的五例确诊病例一起，表明在羊水样本中产前诊断出16三体嵌合体时，在为患者提供咨询时需要谨慎。此类病例可能导致出生有明显出生缺陷、生长发育迟缓及可能有发育障碍的畸形婴儿。
