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

Research output: Contribution to journal › Article › 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.

Original language	English
Pages (from-to)	20-23
Number of pages	4
Journal	Clinical Genetics
Volume	32
Issue number	1
DOIs	https://doi.org/10.1111/j.1399-0004.1987.tb03317.x
Publication status	Published - Jul 1987
Externally published	Yes

Keywords

X‐chromosome
X‐chromosome deletions and fertility
phenotype‐karyotype correlation

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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",

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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

Y1 - 1987/7

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

UR - https://www.scopus.com/pages/publications/0023184263

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

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

M3 - Article

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VL - 32

SP - 20

EP - 23

JO - Clinical Genetics

JF - Clinical Genetics

IS - 1

ER -

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

Abstract

Keywords

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