1/11. Omphalocele and umbilical cord cyst. prenatal diagnosis.We present a case of intrauterine fetal death at 32 week's gestation with omphalocele, umbilical cord allantoic cyst and polyhydramnios. Ultrasound diagnosis of anomalies was performed at 23 weeks of gestation. Fetal karyotype was normal: 46 XX. This association has been found to have a high rate of chromosomal abnormalities, especially trisomy 18. It's difficult to explain the reason why intrauterine fetal death has happened; one possible hypothesis is that the cord cyst, compressing umbilical vessels, have caused intrauterine vascular compromise of blood flow.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
2/11. trisomy 13 with a 13q14q translocation.A sporadic case of Patau syndrome with 46,XY,14-,t(13q14q) karyotype is reported in a 2-month-old child. Dermatoglyphic and cytogenetic findings of the propositus and cytogenetic study of his parents are presented.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
3/11. Van der Woude syndrome with mental retardation: case report.A report of a four and half-year old African patient with Van der Woude syndrome and mental retardation is reported. In addition to cleft lip/palate, hypodontia and lower lip pits; features consistent with Van der Woude syndrome, he manifested features consistent with growth and mental retardation. A genetic basis for these associated features can only be determined by detailed karyotype studies.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
4/11. Three-dimensional first-trimester transvaginal diagnosis of alobar holoprosencephaly associated with omphalocele in a 46,XX fetus.A three-dimensional (3D) transvaginal diagnosis of alobar holoprosencephaly (HPE) with associated omphalocele is reported at 12 weeks, 3 days gestation. Diagnosis of HPE was based on visualization of a single holoprosencephalic cavity with absent falx and basal ganglia and omphalocele by the presence of abdominal wall defect with mid-gut herniation. Chorionic villus sampling showed a normal 46,XX karyotype. 3D volumetric reconstruction allowed a more detailed definition of the anatomic landmarks of the lesion, including visualization of a thin rim of cortical mantel within the prosencephalic cavity, the dysmorphic face with flattened nose, and the abdominal eventration that looked like an abdominal air bag on 3D volumetric reconstruction.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
5/11. prenatal diagnosis of congenital anomalies in an intrauterine growth retarded fetus.Chromosome analysis of amniotic fluid cells and amniotic fluid alpha-fetoprotein determinations were used to investigate a fetus with severe intrauterine growth retardation in the third trimester. The karyotype was 47,XY,18 and increased alpha-fetoprotein levels indicated the presence of congenital malformations. We suggest that when severe fetal growth retardation is detected early in the antepartum course, amniotic fluid alpha-fetoprotein and amniotic fluid cell chromosome studies be done to determine if congenital anomalies may be an etiological factor.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
6/11. Partial trisomy 6q, due to balanced maternal translocation (6;22) (q21; p13) or (q21; pter).We report a stillborn infant with partial trisomy 6q who had several major congenital malformations not previously associated with the chromosomal aberration. These included occipital encephalocele, ambiguous genitalia with imperforate anus, omphalocele and unilateral hydronephrosis. The infant's karyotype was 46,XY,-22,der(22),t(6;22)(q21; p13) or (q21;pter)mat. The mother and maternal grandmother are balanced translocation carriers.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
7/11. Ultrasound placental cysts associated with massive placental stem villous hydrops, diploid dna content, and exomphalos.A pregnancy associated with antenatally detected placental cysts and an anterior abdominal wall defect is described. The anterior abdominal wall defect proved to be an exomphalos in which a short segment of normal cord intervened between the herniated sac and the cord insertion. The placental cysts detected antenatally by ultrasound were shown subsequently to be massive main stem villous hydrops with cisternal formation but no evidence of trophoblastic hyperplasia. Antenatal placental biopsy and amniocentesis revealed a normal male karyotype. Confined placental mosaicism for triploidy was excluded by dna flow cytometry. This case was not associated with beckwith-wiedemann syndrome.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
8/11. Familial occurrence of agonadism and multiple internal malformations in phenotypically normal girls with 46,XY and 46,XX karyotypes, respectively: a new autosomal recessive syndrome.We report on 2 phenotypic sisters, one with 46,XY; the other with 46,XX. The 2 girls had similar related internal malformations, including agonadism, hypoplasia of the right pulmonary artery, hypoplasia of the right lung, isolated dextrocardia with complex vitium cordis, and diaphragmatic hernia (only sib 1) or omphalocele (only sib 2). This combination of malformations did not fit into any of the previously described syndromes. For this syndrome we suggest the acronym PAGOD ([hypoplasia of the] pulmo, and pulmonary artery, agonadism, omphalocele/diaphragmatic defect, dextrocardia). The occurrence of a basically similar set of malformations in 2 unlike sex is interpreted as evidence for autosomal recessive inheritance. The different gonosomal status excludes the y chromosome as a responsible factor. The peculiar finding of a 46,XX sex chromosome constitution combined with agonadism and an intact urogenitral tract emphasizes the concept of secondary regression of Wolffian and Mullerian structures. The associated malformations of mesodermal structures can be interpreted as midline defects. We suggest that, from the developmental field perspective, secondary regression of midline structures including the gonadal anlage explains the pathogenesis reasonably well.- - - - - - - - - - ranking = 4keywords = karyotype (Clic here for more details about this article) |
9/11. Exstrophy of the cloaca in a 47,XXX child: review of genitourinary malformations in triple-X patients.Cloacal exstrophy, unilateral renal agenesis, and Mullerian anomalies occurred in a liveborn infant with a 47,XXX chromosome constitution. The patient extends the range of genitourinary anomalies reported in triple-X patients. Screening asymptomatic patients for urinary tract abnormalities may be useful in searching for silent malformations potentially associated with this karyotype.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
10/11. prenatal diagnosis of omphalocele associated with umbilical cord cyst.BACKGROUND. To study the cytogenetics, ultrasound findings, biochemical screening, perinatal outcome, and associated abnormalities in cases of omphaloceles associated with umbilical cord cysts. methods. From 1988 to 1994, three cases of omphaloceles with umbilical cord cysts were identified at Mackay Memorial Hospital. We compared the clinical data of our three cases with six other cases in the published literature. RESULTS. Two cases of omphaloceles with umbilical cord cysts were affected with trisomy 18. One had bilateral choroid plexus cyst, intrauterine growth retardation, low levels of maternal serum alpha-fetoprotein and free beta-human chorionic gonadotropin, and the other had cleft lip and palate, single umbilical artery and intrauterine growth retardation. An elevated level of maternal serum alpha-fetoprotein was found in the case with normal karyotype. Elevated levels of amniotic fluid alpha-fetoprotein were found in two cases. rupture of the umbilical cord cyst and disruption of the umbilical cord occurred in one case at delivery. Based on the gross and microscopic examinations, the cord cysts we observed are likely to be pseudocysts. CONCLUSION. The umbilical cord cysts most commonly associated with omphaloceles are pseudocysts and allantoic cysts. Among our three cases and the six other cases published in the literature, four out of these nine cases were trisomy 18. prenatal diagnosis of omphaloceles or umbilical cord cysts by ultrasound warrants cytogenetic analysis and detailed sonogram to rule out the possible combination of both abnormalities and trisomy 18. If an omphalocele is associated with a large umbilical cord cyst and a normal karyotype, cesarean section is recommended to prevent the dilemma of intrauterine vascular compromise of umbilical blood flow during labor.- - - - - - - - - - ranking = 2keywords = karyotype (Clic here for more details about this article) |
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