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49,XXYY, +18 in a liveborn male

Webb, G C ; Krumins, E J ; Leversha, M A ; Ford, G W

Journal of medical genetics, 1984-06, Vol.21 (3), p.232-232 [Periódico revisado por pares]

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Título:
49,XXYY, +18 in a liveborn male
Autor: Webb, G C ; Krumins, E J ; Leversha, M A ; Ford, G W
Assuntos: Abnormalities, Multiple - genetics ; Chromosome Aberrations - genetics ; Chromosome Disorders ; Chromosomes, Human, 16-18 ; Humans ; Infant, Newborn ; Male ; Sex Chromosome Aberrations - genetics ; Trisomy
É parte de: Journal of medical genetics, 1984-06, Vol.21 (3), p.232-232
Notas: local:jmedgenet;21/3/232
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Descrição: The authors report a karyotype 49,XXYY,+18 involving aneuploidy of the sex chromosomes plus trisomy 18. This is the first reported case of triple aneuploidy in a male, that is, additional chromosomes X, Y, and 18. Typical features of trisomy 18 were seen, without the phenotypic characteristics of sex chromosome aneuploidy which are not expressed in newborns. The mother showed a few 45,X and 47,XXX cells in lymphocytes and fibroblasts at a level (4 multiplied by 7%) consistent with her age. Her husband was mosaic 46,XY/47,XXY.
Editor: England: BMJ Publishing Group Ltd
Idioma: Inglês

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