A5078582912- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- Chromosomal and Genetic Variations
- Epigenetics and DNA Methylation
- Urological Disorders and Treatments
- Congenital heart defects research
- Genomics and Chromatin Dynamics
- Williams Syndrome Research
- Sexual Differentiation and Disorders
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Cancer Genomics and Diagnostics
- Genomics and Rare Diseases
- Renal cell carcinoma treatment
- Cholangiocarcinoma and Gallbladder Cancer Studies
- RNA modifications and cancer
- Renal and related cancers
- Genetics and Neurodevelopmental Disorders
- Gastrointestinal disorders and treatments
- Microtubule and mitosis dynamics
Hôpital Farhat Hached
2017-2024
University of Sousse
2021-2024
University of Monastir
2020-2022
Hospital Fatuma Bourguiba Monastir
2018
Forty-six ,XY Differences/Disorders of Sex Development (DSD) are characterized by a broad phenotypic spectrum ranging from typical female to male with undervirilized external genitalia, or more rarely testicular regression phenotype. Despite progress in the genetic diagnosis DSD, most 46,XY DSD cases remain idiopathic.To determine causes we studied 165 patients Tunisian ancestry, who presented wide range phenotypes. Karyotyping, candidate gene sequencing, and whole-exome sequencing (WES)...
Carriers of structural chromosomal anomalies, translocations and inversions are at increased risk aneuploid gametes production. Besides the direct effect on involved chromosomes, these rearrangements might disturb segregation other structurally normal chromosomes during meiosis. Such event is known as interchromosomal effect. In this study, six male carriers translocations, four reciprocals two Robertsonians, were investigated. addition, seven fertile men with 46,XY karyotypes sperm...
Small Supernumerary Marker Chromosomes (sSMC) are rare chromosomal abnormalities, which have abnormal banding arrangement and take many shapes. Several disorders been correlated with sSMC presence. The aim of this study is to characterize the derived from chromosome 18 by Fluorescence in situ hybridization (FISH) Array Comparative Genomic Hybridization (aCGH). Nine children dysmorphic features investigated. They these common: a triangular face, low-set ears, large mouth thin upper lip,...
Abstract Background Wolf–Hirschhorn (WHS) is a set of congenital physical anomalies and mental retardation associated with partial deletion the short arm chromosome 4. To establish genotype–phenotype correlation; we carried out molecular cytogenetic analysis on two Tunisian WHS patients. Patient 1 was boy 1-year-old, presented typical phenotype while patient 2, 2 days an hypospadias, micropenis cryptorchidie in addition to phenotype. Both array comparative genomic hybridization fluorescence...
Disorders of sexual development (DSD) are a heterogeneous group genital defects affecting chromosomal, gonadal and anatomical sex. 46,XY DSD is subset which covers wide range phenotypes in dysgenesis (GD) the most severe form. In this study, we report on clinical molecular cytogenetic findings study Tunisian girl with syndromic form DSD.This case was phenotypic female patient having several congenital anomalies including growth retardation. Karyotype, fluorescence situ hybridization array...
<sec><title>Introduction</title><p>Williams-Beuren syndrome (WBS) is a rare genetic disorder characterized by congenital heart defects, dysmorphic features, intellectual delay, and distinctive social behavioral profile. This highly recurrent homogeneous phenotype has been curiously reported to be associated with autism spectrum disorders (ASD). Both environmental origins have implicated. study aimed describe Tunisian patients WBS ASD explore the underlying...
The subtelomeric rearrangements are increasingly being investigated in cases of idiopathic intellectual disabilities (ID) and congenital abnormalities (CA) but also thought to be responsible for unexplained recurrent miscarriage (RM). Such can go unnoticed through conventional cytogenetic techniques undetectable even with high-resolution molecular such as array comparative genomic hybridization (aCGH), especially when DNA the stillbirth or families not available. aim study is evaluate rate...
Abstract Background While Miller-Dieker syndrome critical region deletions are well known delineated anomalies, submicroscopic duplications in this have recently emerged as a new distinctive syndrome. So far, only few cases been described overlapping 17p13.3 duplications. Methods In study, we report on clinical and cytogenetic characterization of two involving 3p26 chromosomal regions sisters with familial history lissencephaly. Fluorescent Situ Hybridization array Comparative Genomic were...
We report on a molecular cytogenetic characterization of 15q26 deletion and 2q37.1 duplication in fetus presenting with intrauterine growth restriction (IUGR), diaphragmatic hernia, multicystic kidneys, left kidney pyelectasis, clubfeet. A terminal 2q at least 10 9 Mb, respectively, derived from maternal translocation, were found. The represents contiguous gene syndrome mainly characterized by IUGR, congenital less frequently defects. This encompasses the IGF1R COUPTF2 genes, known to lead...
Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: Co-occurrence isochromosome Copy Number Variation Background: Tetrasomy (T18p) (OMIM: # 614290) is a rare chromosomal abnormality that results from the presence supernumerary chromosome known as 18p.It one most frequent isochromosomes observed humans with prevalence 1/180000 live born children.This syndrome associated distinctive facial appearance, feeding difficulties infancy, development delay intellectual...
Background: Lissencephaly represents a rare subgroup of genetically distinct neurological disorders neuronal migration characterized by paucity or absence cerebral gyration. The most common form lissencephaly has been isolated and referred to as classic type 1 lissencephaly. It is frequently related abnormalities within LIS1 DCX genes, with ranging from single base pair substitutions contiguous gene deletions. Methods: In this study, we report, for the first time, clinical genetic...
Abstract Background Williams Beuren Syndrome is a multisystemic disorder manifested by congenital heart defects associated with dysmorphic features, intellectual delay, and particular behavioural profile due to microdeletion in 7q11.2. Methods To establish genotype-phenotype correlation; we carried out molecular cytogenetic analysis on 31 Tunisian WBS patients using the CGH-array FISH techniques. Results 6 were investigated CGH-array. All of them had typical deletion ranging from 1.4Mb...
Abstract Background: Wolf-Hirschhorn (WHS) is a set of congenital physical anomalies and mental retardation associated with partial deletion the short arm chromosome 4.To establish genotype-phenotype correlation; we carried out molecular cytogenetic analysis on two Tunisian WHS patients. Patient 1was boy one-year-old presented typical phenotype while patient 2, days an hypospadias, micropenis cryptorchidie in addition to phenotype. Both comparative genomic hybridization (CGH array)...
Abstract Background: Wolf-Hirschhorn (WHS) is a set of congenital physical anomalies and mental retardation associated with partial deletion the short arm chromosome 4.To establish genotype-phenotype correlation; we carried out molecular cytogenetic analysis on two Tunisian WHS patients. Patient 1 was boy one-year-old, presented typical phenotype while patient 2, days an hypospadias, micropenis cryptorchidie in addition to phenotype. Both array comparative genomic hybridization (array CGH)...