Abdelhafid Natiq

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Neural progenitor proliferation and migration influence brain size during neurogenesis. We report an autosomal recessive microcephaly syndrome cosegregating with a homozygous balanced translocation between chromosomes 3p and 10q, and we show that a position effect at the breakpoint on chromosome 3 silences the eomesodermin transcript (EOMES), also known as(More)
We report clinical and molecular cytogenetic characterization of a 2 year-old girl with 19p13.2p13.12 microdeletion and compare her clinical features with those of three other patients reported before. Array comparative genomic hybridization (aCGH) revealed in the present patient a de novo microdeletion of 1.45 Mb within 19p13.2p13.12. The deletion includes(More)
We report the case of a Moroccan boy with mental retardation, hyperactivity, epilepsy, developmental problems and behavioural disorders. Cytogenetic analysis showed the presence of a supernumerary marker chromosome. Molecular cytogenetics allowed us to determine the marker as an inverted duplication of chromosome 15. It is the first case of a Moroccan(More)
INTRODUCTION Trisomy 21 or Down syndrome is the most common type of autosomal chromosome abnormality, with an incidence of one out of 700 live births. Down syndrome is associated with psychomotor delay, characteristic facial features, and sometimes, cardiac, digestive and ocular malformations. The aim of this study was to estimate the proportions of various(More)
OBJECTIVES The aim of this study was (1) to identify the profile of patients being referred for cytogenetic analysis in Morocco, (2) to determine the prevalence and type of chromosomal abnormalities in the different groups, (3) to compare the results with those of similar studies done in other countries. MATERIAL AND METHODS 5572 patients ranging from(More)
Chromosomal heteromorphisms are described as interindividual variation of chromosomes without phenotypic consequence. Chromosomal polymorphisms detected include most regions of heterochromatin of chromosomes 1, 9, 16 and Y and the short arms of all acrocentric chromosomes. Here, we report a girl with Down-syndrome such as facies and tremendously enlarged(More)
Afaf Lamzouri, Abdelhafid Natiq, Mariam Tajir, Mohamed Sendid, Abdelaziz Sefiani Centre de génomique humaine, Faculté de Médecine et Pharmacie, Université Mohammed V Souissi, Rabat, Maroc, Département de génétique médicale, Institut National d’Hygiène, Rabat, Maroc, Faculté des sciences, Université Mohammed V Agdal, Rabat, Maroc, Clinique la Capitale,(More)
Orofacial cleft (OFC) is one of the most common congenital malformations with a global incidence of approximately 1/700 live births. Clinically, OFCs can be syndromic or non-syndromic. A 5 years old boy admitted for genetic evaluation because of psychomotor delay, failure to thrive, dysmorphic features and cleft palate. Conventional cytogenetic showed a(More)