Chimerism 47,XY,+21/46,XX in a female infant with anencephaly and other congenital defects

Lucon, Danielle Ribeiro; Zanchetta, Luciene; Cavalcanti, Denise Pontes

doi:10.1590/s1415-47572006000100006

Cited by 8 publications

(6 citation statements)

References 8 publications

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“…Only a few chimera cases of trisomy 21 and normal karyotype have been reported. [2][3][4] To the best of our knowledge, dual gender chimerism with abnormal male trisomy 18 coexisting with normal female karyotype has not been reported so far, and this case is reported for its rarity and as the first report. Trisomy 18 is the second most common autosomal trisomy syndrome after trisomy 21 and accounts for high frequency of fetal loss and infant mortality.…”

Section: Discussionmentioning

confidence: 83%

A Dual Gender Rare Case with 47,XY, + 18/46,XX Karyotype: Chimera or Mosaic?

Ankathil

Eva

Bakar

et al. 2021

Journal of Child Science

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Our objective is to report one rare case of dual gender chimerism involving abnormal male trisomy 18 and normal female karyotype. The baby was born full term with birth weight of 1.8 kg, not vigorous with light meconium stained liquor and Apgar score of 51, 85 and 910. Parents are 40 years old and mother is G6P5 + 1. The baby had clinical features of Edwards syndrome, and a blood sample was sent to Human Genome Centre, Universiti Sains Malaysia, Malaysia for cytogenetic analysis. Conventional cytogenetic analysis results showed two distinct sex discordant genetic cell lines XY and XX in 90:10 ratio. The male genetic cell line XY also showed trisomy 18 (47,XY, + 18) consistent with clinical diagnosis of male Edwards syndrome, whereas the second genetic cell line showed normal 46,XX female. The present case was reported as dual gender chimera with chi 47,XY, + 18/46,XX karyotype pattern. To the best of available knowledge, dual gender chimerism with abnormal male trisomy 18 and normal female karyotype has not been reported so far, and this case is reported for its rarity and as the first report.

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Section: Discussionmentioning

confidence: 83%

A Dual Gender Rare Case with 47,XY, + 18/46,XX Karyotype: Chimera or Mosaic?

Ankathil

Eva

Bakar

et al. 2021

Journal of Child Science

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“…The phenotypic expressions of such cases are variable. One case was shown to exhibit multiple congenital defects and anencephaly [6], another presented with ambiguous genitalia [5], and one exhibited with ambiguous genitalia but no clinical features of Down syndrome [4]. Genetic counseling for sex-chromosome discordant chimeras with or without trisomy 21 can be extremely difficult.…”

Section: Resultsmentioning

confidence: 99%

“…One was a true hermaphrodite [4], one was a newborn infant with ambiguous genitalia [5], and other two cases had normal gonads [6,7]. Three cases harbored an extra chromosome 21 in their XY lineages [4-6], and one case had mosaicism in the XX lineage [7]. Here, we present the fifth case of sex-chromosome discord4nt chimerism, with trisomy 21 (47, XX + 21/46, XY) and male genitalia.…”

Section: Introductionmentioning

confidence: 99%

The identification of a spontaneous 47, XX, +21/46, XY chimeric fetus with male genitalia

et al. 2012

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BackgroundApproximately 30 sex-chromosome discordant chimera cases have been reported to date, of which only four cases carried trisomy 21. Here, we present an additional case, an aborted fetus with a karyotype of 47,XX, +21/46,XY.Case presentationAutopsy demonstrated that this fetus was normally developed and had male genitalia. Major characteristics of Down syndrome were not observed except an enlarged gap between the first and second toes. Karyotyping of tissues cultured from the fetus revealed the same chimeric chromosomal composition detected in the amniotic fluid but with a different ratio of [47,XX,+21] to [46,XY]. Further short tandem repeat analysis indicated a double paternal contribution and single maternal contribution to the fetus, with the additional chromosome 21 in the [47,XX,+21] cell lineage originating from the paternal side.ConclusionWe thus propose that this chimeric fetus was formed via the dispermic fertilization of a parthenogenetic ovum with one (Y) sperm and one (X,+21) sperm.

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“…The mechanisms that lead to the presence of two cell lines in a single individual can be attributed to either chimerism or mitotic error of cell division at the early stages of embryogenesis, giving rise to mosaicism. Rare cases of chimera have been reported in the literature and only few coexist with autosomal aneuploidy (Wiley et al, 2002; Hwa et al, 2006; Lucon et al, 2006).…”

Section: Discussionmentioning

confidence: 99%

“…In chimera, the two coexisting cell lines in an individual are genetically distinct. Rare cases of chimerism have been reported in the literature (Freiberg et al, 1988; Malan et al, 2007) a few of which are coexisting with autosomal aneuploidy (Wiley et al, 2002; Hwa et al, 2006; Lucon et al, 2006). To distinguish between chimerism and sex mosaicism, molecular studies determining the parental contribution of haploid sets of chromosomes are required.…”

Section: Introductionmentioning

confidence: 99%

Rare case of XX/XY mosaicism and trisomy 13 in early prenatal diagnosis

Sifakis

Anagnostopoulou²,

Plastira³

et al. 2012

Birth Defects Research

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Coexistence of XX/XY sex mosaicism and autosomal trisomy in prenatal diagnosis is particularly rare. Herein, we report the first, to our knowledge, case of a fetus with cyclopia, ambiguous genitalia and a 47,XX,+13,inv9[47]/47,XY,+13[13] karyotype detected at 13 weeks of gestation after chorionic villus sampling. Molecular analysis after prenatal diagnosis suggests that this is a case of sex mosaicism coexisting with trisomy 13, rather than chimera.

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Chimerism 47,XY,+21/46,XX in a female infant with anencephaly and other congenital defects

Abstract: Chimerism is rare in humans and is usually discovered accidentally when a 46,XX and 46,XY karyotype is found in a same individual. We describe a malformed female infant with neural tube defect (NTD) and a 47,XY,+21[5]/46,XX[30] karyotype

Cited by 8 publications

References 8 publications

A Dual Gender Rare Case with 47,XY, + 18/46,XX Karyotype: Chimera or Mosaic?

A Dual Gender Rare Case with 47,XY, + 18/46,XX Karyotype: Chimera or Mosaic?

The identification of a spontaneous 47, XX, +21/46, XY chimeric fetus with male genitalia

Rare case of XX/XY mosaicism and trisomy 13 in early prenatal diagnosis

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