CoChat
Sign Up
Cited by 68Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesSexual Differentiation and DisordersGenomic variations and chromosomal abnormalities

Familial Turner syndrome with an X;Y translocation mosaicism: implications for genetic counseling

Portnoï, Marie-France, Chantot-Bastaraud, Sandra, Christin-Maitre, Sophie, Carbonne, Bruno, Beaujard, Marie-Paule, Keren, Boris, Lévy, Jonathan, Dommergues, Marc +3 more·2012·European Journal of Medical Genetics
DOI 10.1016/j.ejmg.2012.07.001
Open this paper in CoChat — free account

Abstract

Spontaneous fertility is rare among patients with Turner syndrome and is most likely in women with mosaicism for a normal 46,XX cell line. We report an unusual case of familial Turner syndrome with mosaicism for a novel X;Y translocation involving Xp and Yp. The chromosomal analysis was carried out through cytogenetics and molecular karyotyping using a SNP array platform. The mother, a Turner syndrome woman, diagnosed in midchildhood because of short stature, was found to have a 45,X/46,X,der(X)t(X;Y)(p11.4;p11.2) karyotype, with a predominant 45,X cell line. Her parents decided against prophylactic gonadectomy, generally recommended at an early age when Y chromosome has been identified, because at age 13, she had spontaneous puberty and menarche. She reached a final height of 154 cm after treatment with growth hormone. At age 24, she became spontaneously pregnant. She had a mild aortic coarctation and close follow-up cardiac evaluation, including cardiac magnetic resonance imaging, had been performed during her pregnancy, which progressed uneventfully, except for intra-uterine growth retardation. Prenatal diagnosis revealed a female karyotype, with transmission of the maternal translocation with an unexpected different mosaic:47,X,der(X)t(X;Y)x2/46,X,der(X)t(X;Y) karyotype. This complex and unusual karyotype, including a mosaic partial trisomy X and a non-mosaic Xpter-Xp11.4 monosomy, results in transmission of Turner syndrome from mother to daughter. At birth, the girl had normal physical examination except for growth retardation. This family illustrates the complexity and difficulties, in term of patient counseling and management in Turner syndrome, in determining ovarian status, fertility planning, risks associated with pregnancies, particularly when mosaicism for Y material chromosome is identified.

Integrity signals

Registry

Crossref · 10.1016/j.ejmg.2012.07.001

Cites

27 of 27 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Cites

Flagged first, then by citations

Cited by

Sorted by citations

Related

Authors
Portnoï, M.-F., Chantot-Bastaraud, S., Christin-Maitre, S., Carbonne, B., Beaujard, M.-P., Keren, B., Lévy, J., Dommergues, M., Cabrol, S., Hyon, C., & Siffroi, J.-P.
Affiliations
  • Hôpital Armand-Trousseau (FR)
  • Assistance Publique – Hôpitaux de Paris (FR)
Corresponding author
Portnoï, Marie-France
ORCID
Venue
European Journal of Medical Genetics
Publisher
Elsevier BV
Published
2012-11
Volume
55
Issue
11
Pages
635-640
ISSN
1769-7212 (ISSN-L)
DOI
10.1016/j.ejmg.2012.07.001
OpenAlex
W2084143766
Cited by
68
References
27
Citations by year
2026: 4 · 2024: 5 · 2023: 3 · 2022: 3 · 2021: 1 · 2019: 3 · 2018: 33 · 2016: 6 · 2015: 2 · 2014: 3 · 2013: 4
FWCI
1.73
Type
journal article
Language
en
Open access
closed
Licence
Locations
  • European Journal of Medical Genetics (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
Keywords
Turner syndrome, X, Y translocation, mosaicism, genetic counseling, prenatal diagnosis, ovarian function, pregnancy risk, coarctation of the aorta, fetal growth restriction, growth hormone therapy
MeSH terms
Adult, Female, Genetic Counseling, Humans, Infant, Newborn, Mosaicism, Pregnancy, Translocation, Genetic, Turner Syndrome, Polymorphism, Single Nucleotide, Chromosomes, Human, X, Chromosomes, Human, Y

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review