No evidence for chromosomal mosaicism in multiple tissues of 10 patients with 45 XO Turner syndrome

Burns, Jane L.; Hall, Judith G.; Powers, Ellen; Callis, James B.; Hoehn, Holger

doi:10.1111/j.1399-0004.1979.tb02025.x

Cited by 8 publications

(2 citation statements)

References 17 publications

(11 reference statements)

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“…Our medical genetics group in Seattle played an active role in the explosion of new knowledge in cytogenetics (11,120) and metabolic diseases. We described numerous new syndromes, such as Pallister-Hall syndrome (15,86).…”

Section: The 1970smentioning

confidence: 99%

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The Clinic Is My Laboratory: Life as a Clinical Geneticist

Hall

2017

Annu. Rev. Genom. Hum. Genet.

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Clinical genetics is the application of advances in genetics and medicine to real human families. It involves diagnosis, care, and counseling concerning options available to affected individuals and their family members. Advances in medicine and genetics have led to dramatic changes in the scope and responsibilities of clinical genetics. This reflection on the last 50+ years of clinical genetics comes from personal experience, with an emphasis on the important contributions that clinical geneticists have made to the understanding of disease/disorder processes and mechanisms. The genetics clinic is a research laboratory where major advances in knowledge can and have been made.

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Section: The 1970smentioning

confidence: 99%

“…As the 1970s drew to a close, hints of the importance of nontraditional mechanisms, such as mosaicism (11,76,120), in producing congenital anomalies began to arise. The discordance seen in monozygotic twins (57,108) distressed those who used single-gene differences to explain genetic differences between monozygotic and dizygotic twins.…”

Section: The 1970smentioning

confidence: 99%

The Clinic Is My Laboratory: Life as a Clinical Geneticist

Hall

2017

Annu. Rev. Genom. Hum. Genet.

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Y chromosome mosaicism in 45, X turner syndrome

Ostrer

Clayton

1989

Am. J. Med. Genet.

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The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism

1983

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The proportions of chromosomal genotypes associated with the Turner syndrome genotype (excluding those with a Y chromosome) in embryonic and fetal deaths, in fetuses diagnosed prenatally, and in living individuals were reviewed. The ratio of apparent non-mosaic 45,X to 45,X/46,XX mosaics was notably higher in a New York City series of embryonic and fetal deaths, 13.5 to 1, than in living individuals reported to the New York State Chromosome Registry, 3.6 to 1. The ratios of 45,X cases to those with 46,Xi(Xq) was 5.7 to 1 in living individuals, but was 112 to 0 in embryonic and fetal deaths, an even greater disparity, indicating the marked fetoprotective effect of more than one dose of some locus or loci on the long arm of the X chromosome. The results of review of data pertinent to the livebirth prevalence of the (apparent non-mosaic) 45,X genotype suggest a rate of about 5.7 per 100,000 livebirths (11.8 per 100,000 females) with 95% confidence limits of 2.6 per 100,000 to 10.8 per 100,000. The rate in fetuses diagnosed prenatally is 8/27,202, about 30 per 100,000. As a large proportion of these, perhaps 75%, would undergo spontaneous fetal death if not terminated electively, these figures are consistent with the direct estimate of livebirth rates. The rate of all those with X chromosome abnormalities (with a Y chromosome) associated with signs or symptoms that eventually lead to referral for cytogenetic study was estimated at a minimum of 10.7 per 100,000 livebirths, (22.2 per 100,000 females).

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No evidence for chromosomal mosaicism in multiple tissues of 10 patients with 45 XO Turner syndrome

Cited by 8 publications

References 17 publications

The Clinic Is My Laboratory: Life as a Clinical Geneticist

The Clinic Is My Laboratory: Life as a Clinical Geneticist

Y chromosome mosaicism in 45, X turner syndrome

The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism

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