Uniparental disomy (UPD) occurs when a person receives two copies of a chromosome, or of part of a chromosome, from one parent and no copy from the other. The GeneDx Prenatal Targeted Array is a combined CGH and SNP array for detecting copy number changes and uniparental disomy (UPD), respectively. RESULTADOS: a análise molecular da região 7p11 excluiu a dissomia uniparental para este caso. No exame físico foram constatados os principais sinais.

Author: Nilkree Vosho
Country: Malawi
Language: English (Spanish)
Genre: Science
Published (Last): 8 March 2007
Pages: 179
PDF File Size: 20.49 Mb
ePub File Size: 2.40 Mb
ISBN: 534-3-20130-752-5
Downloads: 84493
Price: Free* [*Free Regsitration Required]
Uploader: Mezragore

Fetoplacental chromosomal presence of fetal uniparental disomy, high levels of trisomy in trophoblast, discrepancy.

Chromosomal mosaicism hydropsis fetalis.

In most cases this alteration is present only in the placenta, not being identified in the fetus Apresentou dificuldade para iniciar e manter atividade comunicativa. Low incidence or lack of study”. A chorionic villus measurement.

Although few imprinted genes have been identified, uniparental inheritance of an imprinted dizsomia can result in the loss of gene function, which uniparemtal lead to delayed development, mental retardation, or other medical problems. The pregnancy unipatental uneventfully and age of four months showed normal neuropsychomotor the newborn, a male, was born at 38 weeks and five development, according to information from the days of gestation, weighing 3, g, measuring 48 cm, pediatrician.

At the diploid fetus are both inherited from one of the 31 weeks, the amount of amniotic fluid was normal, Tabela 1. Although the molecular test has not confirmed one of the possible etiological mechanisms of the syndrome, the medical genetic evaluation evidenced the presence of the main signals that had been correlated to literature.

Retrieved 11 June It is worth alteration is present both in the placental tissue and in pointing out that the karyotypes were performed the fetus. J Natl Med Assoc. However, if the UPD-causing event happened during meiosis II, the genotype may dissomua identical copies of the uniparental chromosome isodisomyleading to the manifestation of rare recessive disorders.

Orphanet: Dissomia uniparental de origem paterna cromossoma 14

Is maternal duplication of 11p15 associated with Silver-Russell syndrome? The discrepancy karyotype in amniotic fluid along with UPD investigation found in case 4, in which the fetal karyotype was abnormal uiparental to be essential for the elucidation of the fetal in the first amniocentesis and normal in the second, can diagnosis, since in both cases the postnatal findings be explained by a smaller number of cells analyzed or were compatible with normal newborns.


Retrieved from dissmia https: Therefore, other fetal tissues or placenta, however, is the rarest Its occurrence in infrequent, may occur in clinical practice. Uniparental inheritance of imprinted genes can also result in phenotypical anomalies.

Uniparental disomy

Apparently, the with uniparental disomy, there seems to be an even earlier the gestational age, in uhiparental placental analysis more negative effect on fetal growth The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

Prenatally detected trisomy In most cases, the normal development on sonographic examination raised the doubt about the abnormal fetal karyotype. Diretrizes e normas regulamentadoras de pesquisas envolvendo seres humanos: This complexity of prenatal diagnosis makes development.

This situation is named diszomia placental mosaicism METHODS CPM and can be associated by the end of pregnancy Six cases of discrepant results between cytogenetics with growth restriction without an apparent cause and clinical and sonographic findings were evaluated.

Meiotic origin of trisomy in confined placental mosaicism is correlated with Monosomy Turner syndrome 45,X. Cognitive abilities associated with Silver-Russell syndrome.

On ultrasound follow-up, the fetus presented weeks, and the newborn, a female, weighed 3, g. Confirmation of CVS mosaicism in term placentae and high frequency of intrauterine growth retardation association with confined placental mosaicism. Confirmation of mosaicism and uniparental disomy in amniocytes, after detection of 8.

At two months of age, of maternal asciteswhich indicated a premature the child suffered cardiorespiratory arrest at home delivery at 35 weeks. Disruption of the imprinted Grb10 gene leads to disproportionate overgrowth by an Igf2-independent mechanism.

Silver-Russell syndrome as a cause for early intrauterine growth restriction. Views Read Edit View history. As a result, recessive traits can be expressed. Skip to main content. Indian Journal of Human Genetics. Uniparentl, when it is detected in a further diagnostic work-up and ultrasound follow-up fetus with normal development, it raises the suspicion seem to be essential for a correct management.


Arranjos GeneDx agora detectam variações no número de cópias e Dissomia Uniparental (UPD).

Am J Med Genet. This theory is performed, the greater the chance of finding a could explain the severe progression of case 1, with chromosomal anomaly. Additionally, isodisomy leads to large blocks of homozygosity, which may lead to the uncovering of recessive genes, a similar phenomenon seen in children of consanguineous partners. A rare uniparrental of a hniparental finding Disease definition Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.

A chorionic villus biopsy performed and, upon needle withdrawal, chorionic was performed and revealed a normal karyotype villus was collected. Accuracy of cytogenetic findings on chorionic in both direct and culture of a chorionic villus sample. Low birthweight dwarfism with asymmetry Silver’s syndrome: American Journal of Human Genetics. Health care resources for this disssomia Expert centres Diagnostic tests 75 Patient organisations 24 Orphan drug s 0.

Complete karyotype Guidelines for Obstetrician-Gynecologists. Proposed chromosome results and phenotypic sex [Internet]. UPD can occur as a random event during the formation of egg or sperm cells or may happen in early fetal development. Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.

UPD can occur in one third of cases unipzrental fetal intrauterine growth restriction IUGR at 31 mosaicism and can be explained by the trisomy rescue weeks, observed since the 18th week. The child follow-up to the karyotype.