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Ariadni Mavrou

Publications and source records attributed to Ariadni Mavrou.

12 recordsLinked to original sources
PubMed2006

Array-CGH analysis and clinical description of 2q37.3 de novo subtelomeric deletion.

We report on a 13-year-old girl with normal karyotype and a de novo cryptic terminal deletion of chromosome 2q, detected by subtelomeric FISH analysis. Further investigation with array-CGH analysis using the 1Mb resolution Spectral Chip 2600 (Spectral Genomics) confirmed the deletion and also showed a deletion of four additional clones. No other abnormalities were detected by array-CGH. FISH studies using 8 BAC-probes were performed for fine mapping of the deletion and confirmed the array results. FISH analysis showed that the deletion breakpoint lies between clones RP11-84G18 and RP11-83N2 (physical distance between clones 0.36Mb) and extends to the telomere. The size of the deletion was estimated to be about 6.4-6.7Mb. Clinical findings include: developmental delay, severe behavioural disturbances, growth-pubertal retardation, congenital conductive mild hearing loss, growth hormone deficiency, compensate hypothyroidism, dysmorphic facial features, excessive joint hypermobility, brachymetaphalangy, abnormal dermatoglyphics and a history of neonatal laryngomalacia, hypotonia and umbilical hernia. The phenotype of our patient is in keeping with those of the literature, with the exception of cardiovascular, urogenital, neurological anomalies and eczema, which were not observed. The report of the clinical and molecular presentation of similar cases will allow accurate phenotype-genotype correlation and proper genetic counseling of the family.

Abnormalities, Multiple↗
PubMed2006

Proteomic analysis of amniotic fluid in pregnancies with Down syndrome.

Proteomic analysis is widely used for the detection of diagnostic markers. In the present study amniotic fluid supernatants (AFS) from pregnancies with Down syndrome (DS) fetuses and from chromosomally normal fetuses in the 17th week of gestation were analyzed by 2-DE. Gel comparison revealed significant differences in the two groups. Spots with different expression levels were excised and proteins were identified by MALDI-MS and nano-ESI-MS/MS. Splicing factor arginine/serine-rich 4 (SFRS4; Q08170) was present only in AFS from DS fetuses and completely absent in the control group. Quantitative differences were detected for alpha-1-microglobulin (AMBP; P02760), collagen alpha 1 (I) chain (CO1A1; P02452), collagen alpha 1 (III) chain (CO3A1; P02461), collagen alpha 1 (V) chain d (CO5A1; P20908), and basement membrane-specific heparin sulfate proteoglycan core protein (PGBM; P98160). These proteins were increased in cases with DS, whereas protein IBP-1 (P08833) was decreased by 40% compared with chromosomally normal fetuses. Four proteins, CO1A1, CO3A1, CO5A1, and PGBM, appeared as fragments. As differentially expressed proteins were present in all pregnancies with DS tested, they may represent useful potential markers for prenatal diagnosis. However, for protein biomarkers to be of any clinical utility, systematic analysis of the maternal serum should be conducted.

Amino Acid Sequence↗
PubMed2005

Facioscapulohumeral muscular dystrophy molecular testing using a non radioactive protocol.

Although the facioscapulohumeral muscular dystrophy (FSHD) locus was mapped to 4q35 chromosomal region in 1990, no gene transcript has been as yet identified. Molecular diagnosis is based mainly on the detection of deletions of a 3.3 kb-tandem repeat array in the locus. This procedure offers almost 95% accuracy but is quite complicated and therefore a simpler test would be preferable. We describe a convenient non-radioactive protocol which requires a simple PCR probe synthesis and labelling procedure, thus facilitating and accelerating the standard Southern blot based DNA test. 134 individuals (113 affected and 21 unaffected relatives) were studied and a causal deletion was detected in 72.

Blotting, Southern↗
PubMed2005

Clinical manifestations and molecular investigation of 50 patients with Williams syndrome in the Greek population.

Williams syndrome (WS) is a well-recognized neurodevelopmental disorder manifested by both connective tissue and CNS abnormalities. The study depicts the 8-y experience and follow-up of 50 Greek children with the clinical diagnosis of WS. Clinical data on the facial features and cardiovascular, endocrinologic, and neurodevelopmental evaluation are presented. The most consistent findings were dysmorphic features (100%), followed by dental anomalies (90%) and hyperacousis (90%). Only eight of 50 children had severe cardiovascular defects that required surgical intervention during the first year of life. Supravalvular aortic stenosis was less frequent (28%) than shown in the literature. Severe hypertension was noticed in 22% of our patients, and infantile hypercalcemia was noticed in 6%. Twelve percent of our patients showed an elevation of CPK. Most children presented with moderate to severe mental retardation with IQ ranging from 20 to 85. Elastin hemizygosity was detected by fluorescence in situ hybridization. Dinucleotide repeat polymorphism analysis was performed in an attempt to correlate phenotype with genotype. The origin of deletions was more frequently maternal (59%), and a more severe phenotype seemed to be associated with those deletions. This is the first report on WS patients in the Greek population.

Adolescent↗
PubMed2005

First-trimester NRBC count in maternal circulation: correlation with doppler ultrasound studies.

This study aimed to determine whether the number of nucleated red blood cells (NRBCs) in maternal circulation during the first trimester of pregnancy could identify pregnancies that will have an anomalous Doppler in the second trimester. A total of 85 blood samples were obtained at 11-14 weeks of gestation with mean uterine arterial perfusion index >1.6, as noted by Doppler ultrasonography. NRBCs were enriched by magnetic automated cell sorting using anti-CD71 and were stained with May/Grunwald/Giemsa. A total of 4.8 NRBCs (range 1-75) were identified in 68 cases. Follow-up scans at 22-24 weeks were available in 46 cases. In 39 women, blood flow in the uterine arteries normalized, whereas in seven, high resistance was noted. One woman in the high-resistance group developed preeclampsia (PET; four NRBCs) and another delivered an intrauterine growth restriction (IUGR) baby (75 NRBCs). The number of NRBCs in women whose Doppler indices later normalized and in those who continued to have increased impedance was similar. The study indicates that NRBC number in maternal circulation during the first trimester cannot be used to screen pregnancies at high risk for developing preeclampsia (PET)/IUGR. High-impedance blood flow in the uterine arteries in the first trimester may be due to an unfinished process of trophoblastic invasion, most likely to be completed successfully by 22-24 weeks.

Erythroblasts↗
PubMed2004

Non-Hodgkin lymphoma in a child with Williams syndrome.

Non-Hodgkin lymphoma in an 8-year-old boy with Williams syndrome is reported. Molecular DNA analysis showed a maternal deletion at 7q11.23, the locus of elastin and several other genes, including the BCL7B gene, involved in early development. To our knowledge, this is the second reported case of a lymphoma in a Williams syndrome patient and the first in a child.

Burkitt Lymphoma↗
PubMed2004

Tall stature, insulin resistance, and disturbed behavior in a girl with the triple X syndrome harboring three SHOX genes: offspring of a father with mosaic Klinefelter syndrome but with two maternal X chromosomes.

AIMS: To describe the tall stature and its possible underlying mechanism in a Caucasian girl (age 12 years and 10 months) with 46,XX (28%)/47,XXX (72%) mosaicism and to identify the parental origin of her extra X chromosome. METHODS: The fasting glucose-to-insulin ratio was studied. The karyotypes of the girl and her parents as well as the presence of SHOX copies and the parental origin of her extra X chromosome were assessed. RESULTS: Clinical examination revealed a tall stature and severe acne, and endocrinological/metabolic assessment revealed insulin resistance. Fluorescence in situ hybridization cytogenetic analysis depicted the presence of three SHOX genes in the 47,XXX cell line of the patient. Karyotyping of her parents showed a normal 46,XX karyotype in the mother and 46,XY(93%)/47,XXY(7%) Klinefelter mosaicism in the father. However, DNA analysis unequivocally showed maternal origin of the extra X chromosome of the patient. CONCLUSIONS: This report suggests that SHOX gene triplication may produce a tall stature, even in the presence of preserved ovarian function. X triplication might predispose to insulin resistance and behavioral disorders.

Body Height↗
PubMed2004

Fetal cells in maternal plasma are found in a late state of apoptosis.

OBJECTIVE: The present study was designed to give possible answers to some of the discrepancies regarding the presence or not of intact fetal cells in maternal plasma during pregnancy. MATERIALS AND METHODS: 12-mL peripheral blood was collected from 33 pregnant women in the second trimester: 6 mL was harvested by 3-step Percoll gradient centrifugation and plasma cells were analyzed by FISH with X/Y chromosome specific probes. From the remaining 6 mL, plasma-derived cells were isolated with three different gradient centrifugation protocols and apoptosis was determined following EthBr staining. RESULTS: The number of cells recovered ranged from 900 to 3000. At least one Y positive signal was seen in 12 out of 17 cases with male fetuses at a frequency of 0.12% (range 0.05-0.27%). No XY cells were detected in the plasma of women carrying female fetuses. Hybridization efficiency was <60%. EthBr staining demonstrated that the majority of these cells were in their late apoptosis. CONCLUSION: Our findings confirm the presence of intact fetal apoptotic cells in maternal plasma; however, their late apoptotic state and the low number does not as yet encourage their use in clinical practice.

Apoptosis↗
PubMedDate not supplied

Use of annexin V for the identification of fetal cells in maternal circulation.

MACS with Annexin V-conjugated microbeads was used to isolate cells in apoptosis from the peripheral blood of 112 women at different weeks of gestation and from 15 women (60 samples) sequentially tested postpartum. FISH using X/Y probes was applied to quantitate fetal apoptotic cells. The mean apoptosis rate in the 16th-18th week was 6.5% and fetal cells constituted 5.1% of the apoptotic cell population. In the 26th-28th week it was 10.1%/7.5% and in the 37th-38th week 12.5%/9.9%, respectively. In samples obtained 30 min, 12h and 24h postpartum, the mean apoptosis was 25.1%, 12.5 and 6.1%, respectively and fetal cells constituted 14.8%, 2.1% and 0.16% of the apoptotic cells. Forty-eight h after delivery, apoptosis was 2.3% and no fetal cells were detected. Accurate estimation of the proportion of fetal cells undergoing apoptosis may facilitate the optimization of protocols for non-invasive prenatal diagnosis of chromosomal abnormalities.

Adult↗
PubMedDate not supplied

The normal human amniotic fluid supernatant proteome.

Proteomic analysis combining two-dimentional electrophoresis (2DE) and mass spectrometry (MS) has the potential for a wide range of applications in biological and medical sciences, as protein screening in tissues obtained from healthy and diseased conditions can determine drug targets and diagnostic markers. Conventionally, amniotic fluid (AF) samples are routinely used for prenatal diagnosis of a wide range of fetal abnormalities. Proteomics have already been applied in the analysis of tissues from fetuses with Down's syndrome, in order to detect differences in their protein profile as compared to the normal profiles and to determine possible diagnostic tools. A detailed protein 2DE for the normal human AF has not been reported. In the present study, the 2D protein database of the normal human AF supernatant (AFS) was constructed. Ten AFS samples from women carrying normal fetuses were analysed by 2DE. A mean of 412 spots per gel were analyzed and protein identification was carried out by MALDI-MS and MALDI-MS-MS. A 2D protein map comprising of 136 different gene products was constructed. The majority of the identified proteins are regulatory proteins, enzymes, secreted proteins, carriers and immunoglobulins. Twelve hypothetical proteins were also included. The normal AFS proteome map is a valuable tool for the study of aberrant protein expression and the search for proteins as possible markers for the prediction of abnormal fetuses.

Amniotic Fluid↗