Comparison of perinatal factors in deletion versus uniparental disomy in Prader–Willi syndrome
نویسندگان
چکیده
منابع مشابه
Reciprocal uniparental disomy in yeast.
In the diploid cells of most organisms, including humans, each chromosome is usually distinguishable from its partner homolog by multiple single-nucleotide polymorphisms. One common type of genetic alteration observed in tumor cells is uniparental disomy (UPD), in which a pair of homologous chromosomes are derived from a single parent, resulting in loss of heterozygosity for all single-nucleoti...
متن کاملPrader-Willi syndrome: the psychopathological phenotype in uniparental disomy.
P rader-Willi syndrome (PWS) is a neurogenetic disorder resulting from the absence of a normal paternal contribution to the chromosome 15q11-13 region. The clinical manifestations of PWS are: reduced fetal activity during pregnancy, a transient severe hypotonia and feeding problems in the neonatal period, a variable degree of mental retardation, hyperphagia, obsessive compulsive features such a...
متن کامل'Deletion rescue' by mitotic 11q uniparental disomy in a family with recurrence of 11q deletion Jacobsen syndrome.
We describe a family with recurrent 11q23-qter deletion Jacobsen syndrome in two affected brothers, with unique mosaic deletion 'rescue' through development of uniparental disomy (UPD) in the mother and one of the brothers. Inheritance studies show that the deleted chromosome is of maternal origin in both boys, and microarray shows a break near the ASAM gene. Parental lymphocyte chromosomes wer...
متن کاملMaternal uniparental disomy 7 in Silver-Russell syndrome.
Silver-Russell syndrome (SRS) is characterised by intrauterine and postnatal growth failure accompanied by a variable number of dysmorphic features. It is usually sporadic although a few familial cases have been described. In a prospective study of 33 patients with sporadic SRS, we have studied the parent of origin of chromosome 7 using variable number tandem repeat (VNTR) or microsatellite rep...
متن کاملUniparental disomy and prenatal phenotype
RATIONALE Uniparental disomy (UPD) gives a description of the inheritance of both homologues of a chromosome pair from the same parent. The consequences of UPD depend on the specific chromosome/segment involved and its parental origin. PATIENT CONCERNS We report prenatal phenotypes of 2 rare cases of UPD. DIAGNOSES The prenatal phenotype of case 1 included sonographic markers such as enlarg...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2018
ISSN: 1552-4825,1552-4833
DOI: 10.1002/ajmg.a.38679