Down's Syndrome With X0/Xy Mosaicism

Yeung, Ching‐Hei; Yang, Lillian

doi:10.1111/j.1651-2227.1976.tb04903.x

Cited by 4 publications

(1 citation statement)

References 13 publications

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“…DUT syndrome is the most frequent among them and is estimated to occur at a rate of one in 2 million newborns [McCorquodale et al, 1985]. Of 24 individuals with DUT syndrome reported [Townes et al, 1975;Villaverde and da Silva, 1975;Yeung and Yang, 1976;Gattrad, 1981;MacFaul et al, 1981;Mc-Corquodale et al, 1985;Jaruratanasirikul and Jinorose, 1995], 19 involved intracellular double aneuploidy (XO,+21), 2 had double mosaic aneuploid cell lines (XO/XX,+21) [Grosse et al, 1971;Hustinx et al, 1974], and the remaining 3 were not analyzed chromosomally. Mosaicism with X/XX,+21 cell lines may arise from somatic chromosomal loss or gain [Robinson et al, 1995].…”

Section: Introductionmentioning

confidence: 99%

Origin and mechanism of formation of 45,X/47,XX,+21 mosaicism in a fetus

Harada¹,

Abe

Nishimura

et al. 1998

Am. J. Med. Genet.

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Chromosome analysis of amniotic fluid cells from a 17-week-old fetus with a nuchal cystic hygroma showed a 45,X/47,XX,+21 karyotype. Analyses of cord blood lymphocytes, skin fibroblasts, amniotic membrane, and chorionic villi demonstrated both cell lines in various proportions. We studied the origin and mechanism of formation of the double mosaic aneuploid using Q-banded chromosomal heteromorphisms, and one RFLP, two VNTRs, one tetranucleotide repeat, 28 CA repeat markers, mapped to every member of chromosomes. The heteromorphic markers examined showed no discordant patterns in parent-to-child transmission or between the two cell lines except for those in chromosomes 21 and X. Fetal DNA was extracted from its established monoclonal fibroblast cell lines with 45,X or 47,XX,+21 karyotypes. Genotyping with the DNA markers showed that each cell line was identical at every locus, except for chromosome 21 or X loci, indicating that the fetus was not a chimera but a mosaic. The 21-trisomic cells had one paternal allele and two maternal heterozygous alleles at the D21S270 locus, and the 45,X (21-disomic) cells had two biparental alleles. Alleles at two X chromosomal loci, DXS991 and DXS8057, were biparental in the 47,XX,+21 cells, whereas only the paternal allele was retained in the 45,X cells. Based on these findings, we concluded that the fetus started as a 47,XX,+21 zygote that had resulted from nondisjunction at the maternal first meiotic division and that one each of the maternally derived chromosomes 21 and X was lost during an early mitotic division, leading to the mosaicism.

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Section: Introductionmentioning

confidence: 99%

Origin and mechanism of formation of 45,X/47,XX,+21 mosaicism in a fetus

Harada¹,

Abe

Nishimura

et al. 1998

Am. J. Med. Genet.

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Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance

Jones

McNamara

Longoni

et al. 2018

American J of Med Genetics Pt A

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Turner syndrome is a sex chromosome abnormality in which a female has a single X chromosome or structurally deficient second sex chromosome. The phenotypic spectrum is broad, and atypical features prompt discussion of whether the known features of Turner syndrome should be further expanded. With the advent of clinical whole exome sequencing, there has been increased realization that some patients with genetic disorders carry a second genetic disorder, leading us to hypothesize that a “dual diagnosis” may be more common than suspected for Turner syndrome. We report five new patients with Turner syndrome and a co-occurring genetic disorder including one patient with Li-Fraumeni syndrome, Li-Fraumeni and Noonan syndrome, mosaic trisomy 8, pathogenic variant in RERE, and blepharophimosis-ptosis-epicanthanus inversus syndrome. We also undertook an extensive literature review of 147 reports of patients with Turner syndrome and a second genetic condition. A total of 47 patients (31%) had trisomy 21, followed by 36 patients (24%) had one of 11 X-linked disorders. Notably, 80% of the 147 reported patients with a dual diagnosis had mosaicism for Turner syndrome, approximately twice the frequency in the general Turner syndrome population. This article demonstrates the potential for co-occurring syndromes in patients with Turner syndrome, prompting us to recommend a search for an additional genetic disorder in Turner patients with unusual features. Knowledge of the second condition may lead to modification of treatment and/or surveillance. We anticipate that increased awareness and improved diagnostic technologies will lead to the identification of more cases of Turner syndrome with a co-occurring genetic syndrome.

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Two cases of familial paracentric inversion in man associated with sex chromosome anomaly

Dutrillaux²

1979

Hum Genet

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A paracentric inversion of chromosome 5 was detected after RHG banding in a subject affected by Klinefelter's syndrome. The inversion was also observed in the patient's mother, and was confirmed by QFQ- and RBA-banding techniques. A second paracentric inversion affecting chromsome 7 was detected in a woman with Turner's syndrome. The same structural anomaly was found in her father and her half-brother. The possible relationship between sex chromosome nondisjunction and paracentric inversion is discussed. Furthermore, the inversion of chromosome 7 reproduces exactly the chromosome 7 of the gorilla, which is presumed to be ancestral to the human 7. This therefore appears to be the first reported case of reverse chromosomal mutation.

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Down's Syndrome With X0/Xy Mosaicism

Cited by 4 publications

References 13 publications

Origin and mechanism of formation of 45,X/47,XX,+21 mosaicism in a fetus

Origin and mechanism of formation of 45,X/47,XX,+21 mosaicism in a fetus

Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance

Two cases of familial paracentric inversion in man associated with sex chromosome anomaly

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