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Name: Forensic science international. Genetics
We present a case of a 34-year-old multiparous woman who had been diagnosed with a 14 weeks' gestation showing an abdominal wall bulge possibly representing an omphalocele, containing liver and intest...
Uniparental disomy (UPD) refers to a chromosome defect that an individual's homologous chromosome or segments are inherited from one parent. UPD can cause either aberrant patterns of genomic imprintin...
Prader-Willi syndrome (PWS) is a neurodevelopmental disorder caused by loss of paternally expressed genes in an imprinted region of 15q11.2-q13. We established a human-induced pluripotent stem cell (h...
Acquired uniparental disomy (aUPD) leads to homozygosity facilitating identification of monoallelically expressed genes. We analyzed single-nucleotide polymorphism array-based genotyping data of 448 h...
Pediatric patients with Prader-Willi syndrome (PWS) can be treated with recombinant human GH (rhGH). These patients are highly sensitive to rhGH and the standard doses suggested by the international g...
The Haptoglobin (Hp) gene locus at chromosome 16q22 is polymorphic with two alleles denoted 1 and 2 .The gene product exists in three phenotypes: 1-1, 2-1, and 2-2. The Haptoglobin 2 alle...
OBJECTIVES: I. Investigate phenotype and genotype correlations in patients with Smith-Magenis syndrome (SMS) associated with del(17p11.2). II. Clinically evaluate SMS patients with unusua...
Corpus callosum malformation (CCM) is the most frequently detected cerebral defect diagnosed in the prenatal setting. The most common CCM is corpus callosum agenesis (CCA) which is found i...
The overall significance of this study is to develop a laboratory developed test (LDT) to use a new marker in the maternal blood to better identify pregnancies that have a child with a chr...
Sarcopenia is the decline of muscle mass and strength with age. Evidence suggests that oxidative stress and molecular inflammation play important roles in age-related muscle atrophy. The t...
The presence in a cell of two paired chromosomes from the same parent, with no chromosome of that pair from the other parent. This chromosome composition stems from non-disjunction (NONDISJUNCTION, GENETIC) events during MEIOSIS. The disomy may be composed of both homologous chromosomes from one parent (heterodisomy) or a duplicate of one chromosome (isodisomy).
Genetically and clinically heterogeneous disorder characterized by low birth weight, postnatal growth retardation, facial dysmorphism, bilateral body asymmetry, and clinodactyly of the fifth fingers. Alterations in GENETIC IMPRINTING are involved. Hypomethylation of IGF2/H19 locus near an imprinting center region of chromosome 11p15 plays a role in a subset of Silver-Russell syndrome. Hypermethylation of the same chromosomal region, on the other hand, can cause BECKWITH-WIEDEMANN SYNDROME. Maternal UNIPARENTAL DISOMY for chromosome 7 is known to play a role in its etiology.
An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)
Stretches of genomic DNA that exist in different multiples between individuals. Many copy number variations have been associated with susceptibility or resistance to disease.
An individual having only one allele at a given locus because of the loss of the other allele through a mutation (e.g., CHROMOSOME DELETION).
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...