A case of penta X syndrome caused by nondisjunction in maternal meiosis 1 and 2
نویسندگان
چکیده
The prenatal abnormalities in patients with penta X syndrome appear late in pregnancy and are nonspecific. In contrast, the postnatal phenotype is well described although new findings are still revealed. Penta X syndrome is a result of successive nondisjunctions of the X chromosomes in both maternal meiotic divisions.
منابع مشابه
New Insights into Human Nondisjunction of Chromosome 21 in Oocytes
Nondisjunction of chromosome 21 is the leading cause of Down syndrome. Two risk factors for maternal nondisjunction of chromosome 21 are increased maternal age and altered recombination. In order to provide further insight on mechanisms underlying nondisjunction, we examined the association between these two well established risk factors for chromosome 21 nondisjunction. In our approach, short ...
متن کاملA New Case of Prenatally Diagnosed Pentasomy X: Review of the Literature
Pentasomy X is a rare chromosomal abnormality probably due to a nondisjunction during the meiosis. Only four cases prenatally diagnosed were described until now. Our case is the fifth one prenatally diagnosed at 20 weeks of gestational age in a 39-years-old woman. She underwent invasive prenatal diagnosis for her advanced maternal age without any other known risk factor. Amniocentesis performed...
متن کاملMandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy
Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder characterized by postnatal growth retardation, craniofacial anomalies, skeletal malformations, and mottled cutaneous pigmentation. Hutchinson-Gilford Progeria Syndrome (HGPS) is characterized by the clinical features of accelerated aging in childhood. Both MAD and HGPS can be caused by mutations in the LMNA gene. In this stud...
متن کاملClustering of chromosomal aneuploidy and tracing of nondisjunction in man.
Chromosomal aneuploidy is the most frequent genetic damage observed in newborn children and originates as a rule from nondisjunction during maternal or paternal germ cell development. The error of chromosome segregation could be allocated in the past--at least in cases of 47,XXY--to maternal meiosis I (50%) or meiosis II (10%) and to paternal meiosis I (40%). Recent cytological improvements wit...
متن کاملCombined association of Presenilin-1 and Apolipoprotein E polymorphisms with maternal meiosis II error in Down syndrome births
Alzheimer's disease and Down syndrome often exhibit close association and predictively share common genetic risk-factors. Presenilin-1 (PSEN-1) and Apolipoprotein E (APOE) genes are associated with early and late onset of Alzheimer's disease, respectively. Presenilin -1 is involved in faithful chromosomal segregation. A higher frequency of the APOE ε4 allele has been reported among young mother...
متن کامل