Congenital hyperinsulinism and mosaic abnormalities of the ploidy

Giurgea, Irina

doi:10.1136/jmg.2005.034116

Cited by 54 publications

(53 citation statements)

References 33 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Indeed, an androgenetic cell lineage has been identified in six liveborn individuals with variable phenotypes. [3][4][5][6][7] All the androgenetic cell lineages have a 46,XX karyotype, and this is consistent with the lethality of an androgenetic 46,YY cell lineage.…”

Section: Introductionmentioning

confidence: 66%

“…This model has been proposed for androgenetic/biparental mosaicism generated after fertilization between a single ovum and a single sperm. 5,15,16 The normal methylation pattern of the XIST-DMR is explained by assuming that the two X chromosomes in the androgenetic cell lineage undergo random X-inactivation, as in the normal cell lineage. Furthermore, the results of microsatellite analysis imply that the androgenetic cells were more prevalent in leukocytes than in tongue and tonsil tissues.…”

Section: Discussionmentioning

confidence: 99%

“…[3][4][5][6][7] In this context, leukocytes are preferentially utilized for genetic analyses in human patients, and detailed examinations such as analyses of plural DMRs are necessary to detect an androgenetic cell lineage. Thus, the hitherto identified patients would be limited to those who had androgenetic cells as a predominant cell lineage in leukocytes probably because of a stochastic event and received detailed molecular studies.…”

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Androgenetic/biparental mosaicism in a girl with Beckwith–Wiedemann syndrome-like and upd(14)pat-like phenotypes

et al. 2010

View full text Add to dashboard Cite

This report describes androgenetic/biparental mosaicism in a 4-year-old Japanese girl with Beckwith-Wiedemann syndrome (BWS)-like and paternal uniparental disomy 14 (upd(14)pat)-like phenotypes. We performed methylation analysis for 18 differentially methylated regions on various chromosomes, genome-wide microsatellite analysis for a total of 90 loci and expression analysis of SNRPN in leukocytes. Consequently, she was found to have an androgenetic 46,XX cell lineage and a normal 46,XX cell lineage, with the frequency of the androgenetic cells being roughly calculated as 91% in leukocytes, 70% in tongue tissues and 79% in tonsil tissues. It is likely that, after a normal fertilization between an ovum and a sperm, the paternally derived pronucleus alone, but not the maternally derived pronucleus, underwent a mitotic division, resulting both in the generation of the androgenetic cell lineage by endoreplication of one blastomere containing a paternally derived pronucleus and in the formation of the normal cell lineage by union of paternally and maternally derived pronuclei. It appears that the extent of overall (epi)genetic aberrations exceeded the threshold level for the development of BWS-like and upd(14)pat-like phenotypes, but not for the occurrence of other imprinting disorders or recessive Mendelian disorders.

show abstract

Section: Introductionmentioning

confidence: 66%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Androgenetic/biparental mosaicism in a girl with Beckwith–Wiedemann syndrome-like and upd(14)pat-like phenotypes

et al. 2010

View full text Add to dashboard Cite

show abstract

“…Indications of mosaicism/ chimerism with an androgenetic and a biparental cell population have been observed both in HMs, [12][13][14][15][16], present study in placentas displaying PMD, 18,[23][24][25] and in fetuses/children with malformations or growth abnormalities mimicking (part of) the Beckwith-Wiedemann phenotype. [25][26][27][28][29][30] The phenotype seems to correlate with the localization of the androgenetic cells. In the cases presenting with malformations in a fetus/child, the androgenetic cells were observed in the fetus/child, and in PMD, the androgenetic cells have been observed predominantly in the placental vessels, chorion, and mesenchymal cells.…”

Section: Mosaicism: Hm Versus Pmd Versus Fetal Malformationmentioning

confidence: 99%

Mosaics and moles

Sunde¹,

Niemann²,

Hansen³

et al. 2011

Eur J Hum Genet

View full text Add to dashboard Cite

“…In contrast to non-mosaic genome-wide patUPD, its mosaic status-also known as androgenic/biparental mosaicism-is compatible with life and has been reported for several times (Table 1). [1][2][3][4][5][6][7] For non-mosaic genomewide patUPD, different formation mechanisms have been suggested, which mainly occur from prefertilisation stages (for review, refer Van den Veyver and Al-Hussaini 8 and Golubovsky 9 ). Mosaic genome-wide patUPD is probably the result of a normal conception followed by post-zygotic errors.…”

Section: Introductionmentioning

confidence: 99%