45,X/47,XYY mosaicism: Clinical discrepancy between prenatally and postnatally diagnosed cases

M. J. Pettenati; M. Wheeler; D. J. Bartlett; I. Subrt; N. Rao; R. L. Kroovand; B. K. Burton; S. Kahler; H. K. Park; P. Cosper; D. R. Kelly; J. D. Ranells

doi:10.1002/ajmg.1320390111

45,X/47,XYY mosaicism: Clinical discrepancy between prenatally and postnatally diagnosed cases

M. J. Pettenati^*, M. Wheeler, D. J. Bartlett, I. Subrt, N. Rao, R. L. Kroovand, B. K. Burton, S. Kahler, H. K. Park, P. Cosper, D. R. Kelly, J. D. Ranells

^*Corresponding author for this work

Pediatrics

Research output: Contribution to journal › Article › peer-review

15 Scopus citations

Abstract

45,X/47,XYY mosaicism is a rare chromosomal disorder with clinical information limited to 11 postnatal cases in the literature and with uncertainty regarding prenatal prediction of phenotype and prognosis. We report on 7 new cases of 45,X/47,XYY mosaicism, three detected prenatally and 4 diagnosed postnatally. A clinical comparison of the cases of 45,X/47,XYY mosaicism is presented together with a literature review.

Original language	English (US)
Pages (from-to)	42-47
Number of pages	6
Journal	American Journal of Medical Genetics
Volume	39
Issue number	1
DOIs	https://doi.org/10.1002/ajmg.1320390111
State	Published - Jan 1 1991

Keywords

chromosomal disorder
prenatal diagnosis
sex chromosome mosaicism

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/ajmg.1320390111

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title = "45,X/47,XYY mosaicism: Clinical discrepancy between prenatally and postnatally diagnosed cases",

abstract = "45,X/47,XYY mosaicism is a rare chromosomal disorder with clinical information limited to 11 postnatal cases in the literature and with uncertainty regarding prenatal prediction of phenotype and prognosis. We report on 7 new cases of 45,X/47,XYY mosaicism, three detected prenatally and 4 diagnosed postnatally. A clinical comparison of the cases of 45,X/47,XYY mosaicism is presented together with a literature review.",

keywords = "chromosomal disorder, prenatal diagnosis, sex chromosome mosaicism",

author = "Pettenati, {M. J.} and M. Wheeler and Bartlett, {D. J.} and I. Subrt and N. Rao and Kroovand, {R. L.} and Burton, {B. K.} and S. Kahler and Park, {H. K.} and P. Cosper and Kelly, {D. R.} and Ranells, {J. D.}",

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45,X/47,XYY mosaicism : Clinical discrepancy between prenatally and postnatally diagnosed cases. / Pettenati, M. J.; Wheeler, M.; Bartlett, D. J.; Subrt, I.; Rao, N.; Kroovand, R. L.; Burton, B. K.; Kahler, S.; Park, H. K.; Cosper, P.; Kelly, D. R.; Ranells, J. D.

In: American Journal of Medical Genetics, Vol. 39, No. 1, 01.01.1991, p. 42-47.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - 45,X/47,XYY mosaicism

T2 - Clinical discrepancy between prenatally and postnatally diagnosed cases

AU - Pettenati, M. J.

AU - Wheeler, M.

AU - Bartlett, D. J.

AU - Subrt, I.

AU - Rao, N.

AU - Kroovand, R. L.

AU - Burton, B. K.

AU - Kahler, S.

AU - Park, H. K.

AU - Cosper, P.

AU - Kelly, D. R.

AU - Ranells, J. D.

PY - 1991/1/1

Y1 - 1991/1/1

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AB - 45,X/47,XYY mosaicism is a rare chromosomal disorder with clinical information limited to 11 postnatal cases in the literature and with uncertainty regarding prenatal prediction of phenotype and prognosis. We report on 7 new cases of 45,X/47,XYY mosaicism, three detected prenatally and 4 diagnosed postnatally. A clinical comparison of the cases of 45,X/47,XYY mosaicism is presented together with a literature review.

KW - chromosomal disorder

KW - prenatal diagnosis

KW - sex chromosome mosaicism

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