11/162. A pregnancy following PGD for X-linked dominant [correction of X-linked autosomal dominant] incontinentia pigmenti (Bloch-Sulzberger syndrome): case report.incontinentia pigmenti (Bloch-Sulzberger syndrome) is a rare multisystem, ectodermal disorder associated with dermatological, dental and ocular features, and in <10% of cases, severe neurological deficit. pedigree review suggests X-linked dominance with lethality in affected males. Presentation in female carriers is variable. Following genetic counselling, a mildly affected female carrier diagnosed in infancy with a de novo mutation was referred for preimplantation sexing, unusually selecting for male gender, with an acceptance of either normality or early miscarriage in an affected male. Following standard in-vitro fertilization and embryo biopsy, fluorescence in situ hybridization (FISH) unambiguously identified two male and two female embryos. A single 8-cell, grade 4 male embryo was replaced. A positive pregnancy test was reported 2 weeks after embryo transfer, although ultrasonography failed to demonstrate a viable pregnancy. Post abortive fetal tissue karyotyping diagnosed a male fetus with trisomy 16. This is an unusual report of preimplantation genetic diagnosis (PGD) being used for selection of males in an X-linked autosomal dominant disorder and demonstrates the value of PGD where amniocentesis or chorion villus sampling followed by abortion is not acceptable to the patient. This case also demonstrates the importance of follow-up prenatal diagnosis.- - - - - - - - - - ranking = 1keywords = single (Clic here for more details about this article) |
12/162. prenatal diagnosis of trisomy 4 mosaicism.trisomy 4 mosaicism is rare. To our knowledge only two cases of prenatally diagnosed trisomy 4 mosaicism have been reported. One case resulted in a normal liveborn male, the other resulted in an abnormal liveborn female. The karyotype of our case at the time of amniocentesis was 47,XY, 4[3]/ 46,XY[33] and resulted in a normal liveborn male. FISH analysis using an alpha satellite chromosome 4 probe was performed to confirm the cytogenetic findings. Follow-up chromosome analysis of cord blood, peripheral blood, foreskin, and umbilical cord fibroblasts showed a normal 46,XY male karyotype in all cells. FISH analysis of cord blood, umbilical cord fibroblasts, and amniotic fluid cells demonstrated two signals in 246 nuclei (i.e., 46,XY) and three signals in six nuclei (i.e., 47,XY, 4). Here we describe the present case of trisomy 4 mosaicism, the literature is reviewed, and the significance of this finding is discussed.- - - - - - - - - - ranking = 141.06686631621keywords = umbilical (Clic here for more details about this article) |
13/162. prenatal diagnosis of umbilical cord aneurysm in a fetus with trisomy 18.aneurysm of the umbilical cord is an extremely rare vascular anomaly. We report a case of umbilical cord aneurysm with arteriovenous fistula in a fetus with trisomy 18. At 34 weeks' gestation a fetus with suspected intrauterine growth restriction and oligohydramnios was referred to our institution. Ultrasound examination was confirmatory and additionally revealed multiple markers for trisomy 18. In the umbilical cord an aneurysm was diagnosed characterized by a cystic lesion with hyperechogenic rim measuring 18 x 18 x 19 mm in diameter. color flow and spectral Doppler examinations showed a jet originating from one of the umbilical arteries entering the cystic lesion which appeared to be the dilated umbilical vein. fetal blood sampling and subsequent karyotyping revealed trisomy 18 (47, XY, 18). The patient elected to terminate the pregnancy. Pathologic examination of placenta and umbilical cord confirmed the prenatal diagnosis of umbilical cord aneurysm and arteriovenous fistula. histology demonstrated a strongly dilated umbilical vein, one moderately dilated artery and a second, apparently normal artery.- - - - - - - - - - ranking = 846.69025683604keywords = umbilical, artery (Clic here for more details about this article) |
14/162. Bone marrow cytogenetic abnormalities of aplastic anemia.Cytogenetic abnormalities in association with aplastic anemia have been reported fairly infrequently. Clonal cytogenetic abnormalities at initial diagnosis are uncommon. A retrospective study was performed of the cytogenetic findings in patients with typical morphological and clinical features of severe aplastic anemia from a single institution for the years 1988 through 1998. A total of 30 cases of aplastic anemia, 16 men and 14 women, were identified. The median age was 60 with females being significantly older (67.5 years) in comparison to males (44 years). Bone marrow specimens failed to yield metaphases in 16 cases and normal karyotypes were detected in 11 cases. Cytogenetic abnormalities were detected in 3 cases. Clonal abnormalities, as defined, occurred in only 2 cases (6.7%). A review of the literature identified a total of 24 cases of aplastic anemia with abnormal cytogenetic findings. overall, the most common chromosome abnormalities are trisomies of 6 and 8 and loss of chromosome 7. trisomy 6 is more common at diagnosis while loss of chromosome 7 is more common after therapy.- - - - - - - - - - ranking = 1keywords = single (Clic here for more details about this article) |
15/162. Patient with trisomy 6 mosaicism.trisomy 6 and trisomy 6 mosaicism were found in chorionic villi cell culture and short term incubation in a prenatal diagnosis at 12 weeks of gestation in a pregnancy with a growth retarded fetus showing nuchal translucency. The child was born in the 25th gestational week with a number of malformations including heart defects, deep-set ears, cleft right hand, cutaneous syndactylies, and overlapping toes of irregular shape and length. trisomy 6 was not found in peripheral blood lymphocytes but was confirmed in umbilical cord fibroblasts. Currently, at the age of 2-3/4 years, the development of the child is relatively normal despite considerable growth delay. At the age of two years, she developed a papular erythema clinically suggestive of epidermal nevi. cytogenetic analysis of fibroblast cultures derived from skin from a right hand finger and the inguinal area confirmed the presence of a trisomy 6 mosaicism. This is the first observation of a liveborn with trisomy 6 mosaicism.- - - - - - - - - - ranking = 70.533433158103keywords = umbilical (Clic here for more details about this article) |
16/162. prenatal diagnosis of complete sole trisomy 1q.The prenatal diagnosis of a complete trisomy of the long arm of chromosome 1 is reported. Major ultrasound findings included: nuchal thickening, bi-temporal narrowing, a single choroid plexus cyst, and mild ventriculomegaly. There was a mass in the chest and abdomen, pleural effusion, ascites and a hyperechoic bowel. Skin edema was present. The fetus died at 26 weeks' gestation. A literature review is presented of 17 de novo and two inherited cases with only trisomy 1q. Of note is the fact that 3/5 prenatally detected 1q trisomies have teratomas. A review of the literature reveals a dismal outcome for trisomy 1q cases if the duplication involves bands 1q25-->q32.- - - - - - - - - - ranking = 1keywords = single (Clic here for more details about this article) |
17/162. holoprosencephaly: the Maastricht experience.holoprosencephaly (HPE) is a developmental field defect with impaired cleavage of the embryonic forebrain as the cardinal feature. The prevalence is about 1 in 11.000-20.000 in live births and 1 in 250 during embryogenesis. In most cases, craniofacial abnormalities are associated and reflect in 80% of cases the degree of severity. The severity is of marked variability and ranges from cyclopia to minimal craniofacial dysmorphism, such as mild microcephaly with a single central incisor. The etiology of HPE is very heterogeneous and comprises environmental factors (e.g. maternal diabetes) and genetic causes. Approximately 50% of HPE cases are associated with a cytogenetic abnormality (the most common of which is trisomy 13) or a monogenic syndrome. Based on recurrent cytogenetic abnormalities, there are at least 12 genetic loci that likely contain genes implicated in the pathogenesis of HPE. Currently, four human HPE genes are known: SHH at 7q36, ZIC2 at 13q32, SIX3 at 2p21 and TGIF at 18p11.3. Over the past 13 years, 16 patients with HPE have been observed at the Department of Clinical genetics at Maastricht. Some of them are briefly presented in order to emphasize the spectral nature of HPE and the etiological heterogeneity. One patient appeared to have a partial 18p deletion due to a maternal cryptic translocation t(1:18) and, in addition, a SHH mutation. The mildest affected patient presented with microcephaly and a single maxillary incisor; she had a submicroscopic 7q deletion. Finally, we propose a protocol of etiological work-up of HPE cases.- - - - - - - - - - ranking = 2keywords = single (Clic here for more details about this article) |
18/162. Cytogenetic and molecular characterization of a patient with simultaneous B-cell chronic lymphocytic leukemia and peripheral T-cell lymphoma.A patient is described who developed a peripheral T-cell lymphoma (PTCL) after a 6-year history of B-cell chronic lymphocytic leukemia (B-CLL). The progression of the T-cell disease spreading to pleura and skin terminated the course of the disease. A cytogenetic analysis performed six years after the first onset of the B-CLL showed the presence of two clones, one with trisomy 12 and another with inv(14)(q11q32.1) and trisomy 8. Combined immunophenotyping and fluorescence in situ hybridization demonstrated that only CD19 cells contained a trisomy 12, whereas CD3 cells contained a trisomy 8. Analyses of IgH and TCR rearrangements in single micromanipulated B- and T-cells lacked evidence for a clonal relation between B-CLL and PTCL cells. Based on our findings, we discuss the different hypotheses which might explain the development of simultaneous PTCL and B-CLL.- - - - - - - - - - ranking = 1keywords = single (Clic here for more details about this article) |
19/162. New insights into the biology of multiple myeloma using a combination of May-Grunwald-Giemsa staining and fluorescence in situ hybridization techniques at the single cell level.Up to now only limited information is available about the significance of chromosomal aberrations in multiple myeloma (MM) and about the time point of the neoplastic transformation. fluorescence in situ hybridization (FISH) combined with standard May-Grunwald-Giemsa (MGG) staining or immunophenotyping on a single cell level were applied. Bone marrow (BM) samples were obtained from 11 patients with morphologically proven multiple myeloma. For detection of the chromosomal aberrations, we used FISH on interphase nuclei with commercially available centromere-specific probes for chromosomes 1, 7, 9, 11, 15, and 17 and further dna probes for 5p13, 5q31, Rb-gene (13q14), cyclin d1 gene (11q13), and p53 gene (17p13). The aberration rate differed between 14% and 71% on bone marrow smears. Using the combination of MGG and FISH we analyzed eight patients. A total of 2622 bone marrow cells were morphologically identified and investigated for their specific chromosomal aberrations. For all probes applied, 57 cells of the erythropoietic lineage, 698 cells of the granulopoietic lineage, and 168 lymphocytes showed two normal FISH signals. Of 1723 nuclei of plasma cells, 464 (26.9%) were also not aberrant, whereas all other nuclei of plasma cells (n=1259, 73%) showed a specific aberration. Combination of fluorescence immunophenotyping and in situ hybridization (FICTION) was applied in 10 of 11 patients. Seventy-eight investigated CD34-positive precursor cells did not show any specific aberration detected before in the plasma cell compartment. In conclusion, the combination of MGG and FISH on a single cell level demonstrated that only plasma cells bore the chromosomal aberration and MM did not evolve at an early cell level.- - - - - - - - - - ranking = 6keywords = single (Clic here for more details about this article) |
20/162. sepsis due to clostridium perfringens after pregnancy termination with feticide by cordocentesis: a case report.We report a case of sepsis due to clostridium perfringens after termination of pregnancy at 22 weeks with feticide by cordocentesis. Three weeks earlier, the 41-year-old patient had undergone an amniocentesis and a full trisomy 13 karyotype had been discovered. Feticide was performed by injection of thiopental and potassium chloride after percutaneous umbilical foetal blood sampling through the same needle. The patient delivered vaginally with signs of chorioamnionitis and septicaemia. She recovered under broad-spectrum antibiotherapy. C. perfringens was present in maternal blood cultures, placental smears and foetal organs. We discuss the possible mechanisms of infection by C. perfringens, including inoculation of intestinal germs.- - - - - - - - - - ranking = 70.533433158103keywords = umbilical (Clic here for more details about this article) |
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