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C L Keene

Publications and source records attributed to C L Keene.

6 recordsLinked to original sources

Characterization of de novo duplications in eight patients by using fluorescence in situ hybridization with chromosome-specific DNA libraries.

Fluorescence in situ hybridization (FISH) with chromosome-specific DNA libraries was performed on samples from eight patients with de novo chromosomal duplications. In five cases, the clinical phenotype and/or cytogenetic evaluations suggested a likely origin of the duplicated material. In the remaining three cases, careful examination of the GTG-banding pattern indicated multiple possible origins; hybridization with more than one chromosome-specific library was performed on two of these cases. In all cases, FISH conclusively identified the chromosomal origin of the duplicated material. In addition, the hybridization pattern was useful in quantitatively delineating the duplication in two cases.

Aneuploidy↗

Chorionic villus sampling: the University of Maryland experience.

The University of Maryland was the first program in the state to offer chorionic villus sampling (CVS). Since the program's beginning in 1984, 998 patients have been seen with successful sampling in 99.1 percent, using both transcervical and transabdominal approaches. The overall loss rate was quite low (2.3 percent), and no increased risk of birth defects was seen. These observations demonstrate that CVS provides a safe and accurate alternative to amniocentesis.

Abortion, Eugenic↗

The association of single umbilical artery with cytogenetically abnormal pregnancies.

The clinical significance of the absence of one of the two umbilical arteries (single umbilical artery) lies in its association with congenital malformations. Whether this association includes cytogenetic abnormalities is less clear. A retrospective review of all detected chromosomally abnormal pregnancies at the University of Maryland was carried out. Of 109 cytogenetically abnormal pregnancies, the number of umbilical cord vessels could be documented in 53 cases. Six (11.3%) had a single umbilical artery. A single umbilical artery was noted in two of nine fetuses (22.2%) with trisomy 18 and in two of six fetuses (33.3%) with trisomy 13. Two other unusual chromosomal constitutions were noted in cases of a single umbilical artery. None of the 11 fetuses with sex chromosome abnormalities (including eight with monosomy X) had a single umbilical artery. Of 18 fetuses with trisomy 21, none had a single umbilical artery. This study suggests that a single umbilical artery is preferentially associated with certain karyotypic abnormalities and that trisomy 21 does not appear to be associated with a single umbilical artery.

Amniocentesis↗

Spinal cord compression following labor and delivery with epidural analgesia.

Transient back pain is not uncommon during pregnancy and the postpartum period. Following an epidural anesthetic, back pain persisted in a postpartum patient beyond the expected period of soreness. Further diagnostic evaluation led to diagnosis and surgical decompression of a herniated thoracic disc.

Adult↗