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Turner's syndrome--case report of a female patient with chromosome mosaicism

Roglić, A ; Kastelan, D ; Kozić-Rukavina, B ; Korsić, M

Liječnički vjesnik, 1998-07, Vol.120 (7-8), p.210-212 [Periódico revisado por pares]

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Título:
Turner's syndrome--case report of a female patient with chromosome mosaicism
Autor: Roglić, A ; Kastelan, D ; Kozić-Rukavina, B ; Korsić, M
Assuntos: Female ; Humans ; Karyotyping ; Middle Aged ; Mosaicism ; Pregnancy ; Turner Syndrome - genetics
É parte de: Liječnički vjesnik, 1998-07, Vol.120 (7-8), p.210-212
Notas: ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Feature-1
content type line 23
ObjectType-Report-3
ObjectType-Case Study-4
Descrição: A 45-year old woman with the typical Turner's phenotype (short stature, short and broad neck, shield chest and low hairline) and signs of ovarian failure started at the age of 37 with menopause at the age of 44, is presented. The cytogenetic analysis showed the presence of three different cell lines with 45,X, 46,XX and 47,XXX karyotypes. It is a rare type of mosaicism, combining Turner's and triple-X syndrome. Interestingly, the became pregnant and gave birth to a healthy child. Second pregnancy resulted in a miscarriage in the first trimester.
Editor: Croatia
Idioma: Croatian

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