IMPE Abstracts

Purpose: Mosaic variegated aneuploidy syndrome type 2(MVA2) is a rare, autosomal recessive genetic disease characterized by mosaic aneuploidies involving multiple chromosomes and tissues, caused by biallelic pathogenic variants in the CEP57 gene. Patients usually present with intrauterine growth retardation, postnatal growth and developmental disorders, microcephaly, special facial features, congenital heart disease, etc. Only 13 cases of patients carrying the...

Background: Delayed puberty is defined in girls by the absence of breast development beyond 13 years old and in boys by the absence of testicular enlargement (< 4 ml) beyond 14 years old. In girls, delayed puberty is rare and often organic, and then Turner syndrome should be systematically suspected. In boys, delayed puberty is often constitutional and functional. The aim is to raise awareness of the diagnosis of atypical Turner syndrome.<p class="abste...

Purpose: Vissers-Bodmer Syndrome is an autosomal dominant disorder caused by CNOT1 gene mutation. It is characterized by systemic developmental delay, mental retardation, language-motor retardation, behavioral abnormalities, growth abnormalities, hypotonia, and distal skeletal defects such as deformities of the hands and feet, It’s evident from infancy. The phenotype is highly variable, with some people having only mild learning difficulties and others h...