Prenatal diagnosis of monosomy 4p14→pter and trisomy 11q25→qter: clinical presentations and outcomes

We present the case of a pregnant woman with low free β-HCG in maternal serum Down syndrome screening that led to prenatal diagnosis of a fetus with 46,XY,der(4)t(4;11)(p14; q25). This chromosomal aneuploidy resulted from unbalanced segregation of a paternal balanced translocation, t(4;11)(p14;q25). Prenatal ultrasound revealed intrauterine growth restriction, cleft lip and palate, a thick nuchal fold, a single umbilical artery, and pyelectasis. Array-based comparative genomic hybridization and short tandem repeat markers further located the exact breakpoint of translocation. The woman had her pregnancy terminated at 23 weeks of gestational age. The proband had general appearance of Wolf–Hirschhorn syndrome and some unique findings, including single umbilical artery, severe immunoglobulin deficiency, scalp defect, and underlying bony defect. Our case underscores the importance of fetal karyotyping when low maternal serum free β-HCG is found. It also adds information on the fetal presentations of monosomy 4p14→pter and trisomy 11q25→qter. Copyright © 2005 John Wiley & Sons, Ltd.     

Mosaicism of 46,XX/47,XX,+9/47,XX,+?mar in the same amniotic fluid with apparent loss of one cell line after delivery

A 46,XX; 47,XX,+9; 47,XX, + ?mar karyotype was detected in an amniotic fluid cell culture and confirmed in a subsequent fetal blood sample from a 40-year-old woman. After termination of the pregnancy, none of the 186 mitoses obtained from a second blood sample was trisomic for chromosome 9 (p<0.001). Selection against cells containing trisomy 9 is postulated to explain the disappearance of the lymphocyte clone.     

环磷酰胺等三种化学物诱发褐斑大蠊染色体畸变分析

染色体的畸变分析是一种简便易行,经济的遗传毒理学方法,可用来探讨诱变物对生物遗传系统的影响。目前人们多利用鼠类、赤麂及人的培养细胞来进行染色体畸变分析,其它材料很少见,蜚蠊(俗称蟑螂)是一种重要的卫生昆虫,也是一种较好的遗传学研究材料,其分布广泛,与人的日常生活环境密切相关,能否利用它作为一种污染的监测因子呢?我们利用褐斑大蠊(Periplaneta brunnea,Burmeister 1838)进行了初步尝试。     

The use of the embryo‐culture techniques in the research on the Teratogenic and Mutagenic properties of metals†

Actually, embryos can be cultured from the one‐cell stage up to the blastocyst stage, and their development can be easily monitored at any time: severe effects caused by toxic compounds are traduced by rapid embryonic death, less pronounced effects can be expressed by a lowered cleavage activity or by an arrest of the development from a particular stage. The system can be improved by transferring the embryos at the blastocyst stage in another more complete medium where they can “implant”; and form an inner cell mass with differentiated ectoderm and endoderm. Since last years, it has also become possible to culture postimplantation rodent embryos for short periods involving a number of particularly critical stages of organogenesis, such as the formation and closure of the anterior neuropore. Embryo‐culture also represents a useful system to study cytogenetic effects of chemicals which are often linked to lethal or teratogenic effects. These different possibilities are illustrated by examples of studies already performed with metals, and dealing with their teratogenic and/or cytogenetic effects on pre‐ and postimplantation rodents.     

Electron microscopy documenting the cellular metabolic fate of Zn IONS∗

In vertebrates and invertebrates Zn exist as complexed compounds with metallothioneins. However, its cellular level effects and metabolic fates are scantly documented. In the elucidation of this fact, EM results on hepatic cellular alterations in fish under lethal dose exposure at 4.0 ppm over a week is illustrated.

A large number of lysosomes in hepatic cells prevailed on exposure to Zn in its sulfate form. Evidently, due to metal compound stress and cellular damage lysosomal activity is augmented. The lysosomes harboured digestible material, presumably the aforementioned substrates. Contrary to it, fat droplets prevailed while glycogen depletion is noticeable. Unlike the effects of Hg, the nuclei were normal with granular chromatin and prominent nucleoli. However, the mitochondria contained some small intramitochondrial bodies. Similar to the effects of Hg, the cell membrane remained intact.

In vivo enzymatic studies indicated augmentation in catalase, acid‐ and alkaline‐phosphatases, while glucose‐6‐phosphatase is inhibited. However, only alkaline‐ and glucose‐6‐phosphatases are inhibited under in vitro conditions.

Thus, it is evident that Zn enhances cellular bioenergetic requirements culminating in glycogen depletion owing to stress, concomitantly envisaging inhibition of oxidative phosphorylation in the electron transport system.