6 publication(s) trouvée(s)
Article scientifique
Clinical and molecular characterization of 1q43q44 deletion and corpus callosum malformations: 2 new cases and literature review
BACKGROUND: Corpus callosum malformations (CCM) represent one of the most common congenital cerebral malformations with a prevalence of around one …
Article scientifique
Cytogenetic profile of adult acute myeloid leukemia in Egypt: a single-center experience
BACKGROUND: Acute myeloid leukemia (AML) is a diverse disease characterized by the expansion of blasts of myeloid lineage. Cytogenetic testing …
Article scientifique
Disorders of sex development in Wolf–Hirschhorn syndrome: a genotype–phenotype correlation and MSX1 as candidate gene
BACKGROUND: Wolf-Hirschhorn (WHS) is a set of congenital physical anomalies and mental retardation associated with a partial deletion of the …
Article scientifique
Rare cytogenetic abnormalities and their clinical relevance in pediatric acute leukemia of Saudi Arabian population
BACKGROUND: Childhood Acute Leukemia (AL) is characterized by recurrent genetic aberrations in 60% of AML cases and 90% of ALL …
Article scientifique
Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization
BACKGROUND: Small Supernumerary Marker Chromosomes (sSMC) are rare chromosomal abnormalities, which have abnormal banding arrangement and take many shapes. Several …
Article scientifique
Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation
BACKGROUND: Microdeletion of 1q43q44 causes a syndrome characterized by intellectual disability (ID), speech delay, seizures, microcephaly (MIC), corpus callosum abnormalities …