Non‐mosaic isodicentric X‐chromosome in a patient with secondary amenorrhea

G. Ponzio; F. Chiodo; M. Messina; N. Surico; E. Libanori; E. Folpini; A. Porcelli; C. Marchese

doi:10.1111/j.1399-0004.1987.tb03317.x

Non‐mosaic isodicentric X‐chromosome in a patient with secondary amenorrhea

G. Ponzio, F. Chiodo, M. Messina, N. Surico, E. Libanori, E. Folpini, A. Porcelli, C. Marchese

Risultato della ricerca: Contributo su rivista › Articolo in rivista › peer review

Abstract

An isodicentric X‐chromosome idic(X) (pter→ q26.1::q26.1 → pter) was found in lymphocytes and ovarian tissue of a 40‐year‐old female patient with secondary amenorrhea. No mosaicism was observed. The phenotype‐karyotype correlation of our case and of previously described non‐mosaic cases of idic(X) (q::q) with different breakpoints is discussed.

Lingua originale	Inglese
pagine (da-a)	20-23
Numero di pagine	4
Rivista	Clinical Genetics
Volume	32
Numero di pubblicazione	1
DOI	https://doi.org/10.1111/j.1399-0004.1987.tb03317.x
Stato di pubblicazione	Pubblicato - lug 1987
Pubblicato esternamente	Sì

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10.1111/j.1399-0004.1987.tb03317.x

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title = "Non‐mosaic isodicentric X‐chromosome in a patient with secondary amenorrhea",

abstract = "An isodicentric X‐chromosome idic(X) (pter→ q26.1::q26.1 → pter) was found in lymphocytes and ovarian tissue of a 40‐year‐old female patient with secondary amenorrhea. No mosaicism was observed. The phenotype‐karyotype correlation of our case and of previously described non‐mosaic cases of idic(X) (q::q) with different breakpoints is discussed.",

keywords = "X‐chromosome, X‐chromosome deletions and fertility, phenotype‐karyotype correlation",

author = "G. Ponzio and F. Chiodo and M. Messina and N. Surico and E. Libanori and E. Folpini and A. Porcelli and C. Marchese",

year = "1987",

month = jul,

doi = "10.1111/j.1399-0004.1987.tb03317.x",

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AU - Ponzio, G.

AU - Chiodo, F.

AU - Messina, M.

AU - Surico, N.

AU - Libanori, E.

AU - Folpini, E.

AU - Porcelli, A.

AU - Marchese, C.

PY - 1987/7

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N2 - An isodicentric X‐chromosome idic(X) (pter→ q26.1::q26.1 → pter) was found in lymphocytes and ovarian tissue of a 40‐year‐old female patient with secondary amenorrhea. No mosaicism was observed. The phenotype‐karyotype correlation of our case and of previously described non‐mosaic cases of idic(X) (q::q) with different breakpoints is discussed.

AB - An isodicentric X‐chromosome idic(X) (pter→ q26.1::q26.1 → pter) was found in lymphocytes and ovarian tissue of a 40‐year‐old female patient with secondary amenorrhea. No mosaicism was observed. The phenotype‐karyotype correlation of our case and of previously described non‐mosaic cases of idic(X) (q::q) with different breakpoints is discussed.

KW - X‐chromosome

KW - X‐chromosome deletions and fertility

KW - phenotype‐karyotype correlation

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U2 - 10.1111/j.1399-0004.1987.tb03317.x

DO - 10.1111/j.1399-0004.1987.tb03317.x

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JO - Clinical Genetics

JF - Clinical Genetics

IS - 1

ER -

Non‐mosaic isodicentric X‐chromosome in a patient with secondary amenorrhea

Abstract

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