A5054731341- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Fetal and Pediatric Neurological Disorders
- Chromosomal and Genetic Variations
- Congenital heart defects research
- Congenital Ear and Nasal Anomalies
- Tissue Engineering and Regenerative Medicine
- Parvovirus B19 Infection Studies
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Pluripotent Stem Cells Research
- Mesenchymal stem cell research
- Renal and related cancers
- Hedgehog Signaling Pathway Studies
- Intestinal Malrotation and Obstruction Disorders
- Gastrointestinal Tumor Research and Treatment
- Congenital limb and hand anomalies
- Congenital gastrointestinal and neural anomalies
- Tumors and Oncological Cases
- Genetic Syndromes and Imprinting
- Bone Tumor Diagnosis and Treatments
- Ubiquitin and proteasome pathways
- Gastrointestinal disorders and treatments
- Ectopic Pregnancy Diagnosis and Management
Ospedale SS. Annunziata
2016-2022
University of Chieti-Pescara
2005-2019
Medical Genetics Center
2016
Ospedale di Santo Spirito
2012
Background Amniotic epithelial cells (AEC) have potential applications in cell-based therapy. Thus far their ability to differentiate into tenocytes has not been investigated although a cell source providing large supply of remains priority target regenerative medicine order respond the poor self-repair capability adult tendons. Starting from this premise, present research designed firstly verify whether co-culture with primary could be exploited induce tenogenic differentiation AEC, as...
We report on a 10-year-old patient with childhood apraxia of speech (CAS) and mild dysmorphic features. Although multiple karyotypes were reported as normal, bacterial artificial chromosome array comparative genomic hybridization revealed the presence de novo 14.8-Mb mosaic deletion 7q31. The deleted region involved several genes, including FOXP2, which has been associated CAS. Interestingly, here was observed in about 50% cells, is first case mosaicism 7q31 deletion. Despite only phenotype...
Human amniotic fluid-derived stem cells (AFSCs) represent a novel class of broadly multipotent sharing characteristics both embryonic and adult cells. However, the origin these their actual properties in terms pluripotent differentiation potential are still debated. In order to verify presence features pluripotency human second trimester AFSCs, we have investigated ability form vitro three-dimensional aggregates, known as embryoid bodies (EBs), express specific genes (ESCs) primordial germ...
Amniotic fluid has drawn increasing attention in the recent past as a cost-effective and accessible source of fetal stem cells. fluid-derived mesenchymal cells (AFMSCs) that display high proliferation rate, large spectrum differentiation potential, immunosuppressive features are considered optimal candidates for allogeneic repair damaged tissues. In this study, ovine AFMSCs (oAFMSCs) isolated from 3-month-old sheep fetuses were characterized their specific surface antigen pluripotency marker...
We report on an 18-month-old boy conceived by assisted reproduction technology with developmental delay, hypotonia, microcephaly, frontal bossing, a mild convergent squint, malformed ears, and short neck. Karyotype analysis revealed de novo 7q21.1q22.3 duplication characterized array comparative genomic hybridization (array-CGH) as segment of 18.69 Mb. Duplications the long arm chromosome 7 are uncommon. There 18 reported cases different 7q segments pure no additional deletion other...
We report the first case of an 18p11.32 deletion, detected by array CGH, associated with a drug-resistant form atypical absence epilepsy, global developmental delay and no signs holoprosencephaly (HPE). In particular, this region encompasses 19 genes, none these genes have been strictly epilepsy. Among these, <i>TGIF1</i> is expressed in fetal adult nervous system, its deletion has related to central system diseases. deletions previously reported patients comparable phenotype as...
A long sought goal in medical genetics has been the replacement of invasive procedures for detection chromosomal aneuploidies by isolating and analyzing fetal cells or free DNA from maternal blood, avoiding risk to fetus. However, a rapid, simple, consistent, low-cost procedure suitable routine clinical practice not yet achieved. The purpose this study was assess feasibility predicting aneuploidy applying our recently established dual-probe FISH protocol isolated enriched blood.A total 172...
From January 1st 2013 to August 31st 2016, 24408 pregnant women received the first trimester Combined test and contingently offered second maternal serum screening identify those who would most benefit from invasive prenatal diagnosis (IPD). The was based on cut-offs of ≥1:30 (IPD indicated), 1:31 1:899 (second indicated) ≤1:900 (no further action), a cut-off ≥1:250. 2014, analysis fetal cells peripheral blood also with positive results. For Down syndrome, overall detection rate 96.8% for...
ABSTRACT Study design A population of 10 156 pregnant women with singleton pregnancies were screened by the integrated test. Risks retrospectively recalculated for contingent test strategies first step intermediate risk groups defined trimester upper cut‐offs 1 : 10, 30, 50, and 70 lower 1500, 1200, 1100, 900. The second high group was based on a single cut‐off 250. Results In trimester, detection rate (DR) ranged from 21% (6/29) to 52% (15/29) as changed 70. corresponding false positive...
We describe the case of an adult patient affected by multiple exostoses, severe mental retardation, epilepsy and facial dysmorphisms with a deletion ∼2.3 Mb on chromosome 11p11.21, correlated to Potocki-Shaffer syndrome (PSS). PSS is rare contiguous gene syndrome, mainly characterized exostoses bilateral parietal foramina. Mental retardation craniofacial have often been reported, too. Although showed many signs since early childhood, diagnosis was suggested only when we examined her at age....
Abstract Background Chromosomal microarray analysis (CMA) is nowadays widely used in the diagnostic path of patients with clinical phenotypes. However, there no ascertained evidence to date on how assemble single/combined categories developmental phenotypic findings improve array‐based detection rate. Methods The Italian Society Human Genetics coordinated a retrospective study which included CMA results 5,110 referred 17 genetics laboratories for variable combined Results Non‐polymorphic...
Palka, Chiara; Antonucci, Ivana; Alfonsi, Melissa; Bedeschi, Maria Francesca; Mohn, Angelika; Lalatta, Faustina; Chiarelli, Francesco; Giandomenico; Stuppia, Liborio Author Information
VACTERL association is defined by the occurrence of congenital malformations: vertebral defects, anal atresia, cardiac tracheoesophageal fistula with esophageal radial and renal dysplasia, limb defects. No genetic alterations have been discovered except for some sporadic chromosomal rearrangements gene mutations. We report a boy shawl scrotum bifid who presented de novo Yq11.223q11.23 microdeletion identified array CGH. The deletion spans 3.1 Mb encompasses several genes in AZFc region,...
Abstract Background Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome (Online Mendelian Inheritance in Man [OMIM] #277000) is a congenital condition characterized by the total or partial agenesis of vagina and uterus. Agenesis can be isolated (MRKH 1) associated with other renal, vertebral cardiac defects 2). Case presentation In this paper, we report case Caucasian patient showing clinical signs MRKH. Array-based comparative genomic hybridization (a-CGH) analysis revealed microduplication...
A prenatal case of a de novo interstitial deletion distal to 8q24 was reported. Ultrasound examination and postmortem evaluation demonstrated no apparent phenotypic alterations. Array CGH showed an 11.4-Mb loss in chromosome 8 ranging from 8q24.13 8q24.23. This partially overlaps the 2 cases previously described literature.
Alfonsi, Melissaa; Palka, Chiarab; Morizio, Elisenaa; Gatta, Valentinaa; Antonucci, Ivanaa; Ruggeri, Giuseppec; Chiarelli, Francescob; Stuppia, Liborioa; Giandomenicoa,d; Calabrese, Giuseppea,d Author Information