Another case of prenatally diagnosed 48,XYY,+21

Stevens, Juliann; Lin, Angela E.; Gettig, Elizabeth; Filkins, Karen; McPherson, Elizabeth

doi:10.1002/ajmg.1320550425

Cited by 4 publications

(3 citation statements)

References 18 publications

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“…Double autosomal/gonosomal aneuploidy, as was found in the present case, has been described before, i.e., involving trisomy 8, 18, or 21 (DeBrasi et al, 1995;Jaruratanasirikul and Jinorose, 1994; Stevens et al, 1995). Even three cases of a sex chromosome tetrasomy with an additional autosomal trisomy (8 or 18) have been reported (Sutherland et al, 1978;Kardon et al, 1980;Webb et al, 1984).…”

Section: Discussionsupporting

confidence: 81%

Misinterpretation of Trisomy 18 as a Pseudomosaicism at Third-Trimester Amniocentesis of a Child With a Mosaic 46,xy/47,xy,+3/48,xxy,+18 Karyotype

et al. 1997

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Section: Discussionsupporting

confidence: 81%

Misinterpretation of Trisomy 18 as a Pseudomosaicism at Third-Trimester Amniocentesis of a Child With a Mosaic 46,xy/47,xy,+3/48,xxy,+18 Karyotype

et al. 1997

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“…The prevalence of Down syndrome is approximately 1.66 per 1,000 cases, and in the overwhelming majority of cases, the reason for the condition is a free‐standing trisomy 21 [Stoll et al, 1998]. The most frequent additional numerical chromosomal aberrations in addition to trisomy 21 are aneuploidies of the gonosomes, leading to karyotypes like 48,XXY,+21 [Lorda‐Sanchez et al, 1991], 48,XXX,+21 [Park et al, 1995], or 48,XYY,+21 [Stevens et al, 1995]. Small supernumerary marker chromosomes (SMC), on the other hand, are found in 0.01–0.05% of liveborn infants [Buckton et al, 1980].…”

Section: Introductionmentioning

confidence: 99%

First patient with trisomy 21 accompanied by an additional der(4)(:p11 → q11:) plus partial uniparental disomy 4p15‐16

Starke

Mitulla²,

Nietzel

et al. 2002

American J of Med Genetics Pt A

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We report on a rare additional numerical chromosomal aberration in a child with Down syndrome due to free trisomy 21. The karyotype showed 48,XY,+21,+mar after GTG banding, with the marker present in 80% of cells. The supernumerary marker chromosome (SMC) was as small as approximately one‐third of 18p, and with the recently developed centromere‐specific multi‐color fluorescence in situ hybridization (cenM‐FISH) technique, it was shown that the SMC was a derivative chromosome 4. The SMC was not specifically stained by arm‐specific probes for chromosome 4; thus, it has been described as der(4)(:p11 → q11:). Microsatellite analysis resulted in a partial maternal uniparental isodisomy (UPD) for chromosome 4p15–16 and a maternal origin for two chromosomes 21. Until now only two similar cases have been described in the literature, but without clarifying the origin of the SMC and without looking for an additional UPD. This is the only reported case of a UPD 4p in a liveborn child. © 2002 Wiley‐Liss, Inc.

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“…1 Additional chromosome abnormalities in DS have been reported and the most frequent additional numerical chromosomal aberrations in DS in addition to trisomy 21 are 48,XXY,+21 2, 3, or 48,XYY,+21. 4 Small supernumerary marker chromosomes (sSMC) are reported to be found in 0.01-0.05% of liveborn infants. 5,6 Trisomy 21 with an additional sSMC has been reported only in three cases so far.…”

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confidence: 99%

Familial small supernumerary marker chromosome (sSMC) (14)(:P11–q11:)In a child with translocation down syndrome

2009

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We report a case of familial small supernumerary marker chromosome (sSMC)in a child with translocation Down syndrome (DS)and mother. The GTG-banded chromosomal analysis of DS child revealed 47,XY,+21,+mar and mother karyotype was 47,XX,+mar. The GTG-banded sSMC had a similar morphology of small acrocentric chromosomes. Fluorescence in situ hybridization (FISH)evaluation of sSMC using centromere probes(13/21,14/22,22)confirmed sSMC as derivative chromosome 14. The sSMC was not specifically stained with whole chromosome paint and arm-specific probes for chromosome 14;thus it has been described as der(14)(:p11-q11:).The phenotypic changes were not evident, may be due to trisomy condition in the child or the sSMC contain repetitive sequences.

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Another case of prenatally diagnosed 48,XYY,+21

Cited by 4 publications

References 18 publications

Misinterpretation of Trisomy 18 as a Pseudomosaicism at Third-Trimester Amniocentesis of a Child With a Mosaic 46,xy/47,xy,+3/48,xxy,+18 Karyotype

Misinterpretation of Trisomy 18 as a Pseudomosaicism at Third-Trimester Amniocentesis of a Child With a Mosaic 46,xy/47,xy,+3/48,xxy,+18 Karyotype

First patient with trisomy 21 accompanied by an additional der(4)(:p11 → q11:) plus partial uniparental disomy 4p15‐16

Familial small supernumerary marker chromosome (sSMC) (14)(:P11–q11:)In a child with translocation down syndrome

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