Trisomy Xp and partial tetrasomy Xq resulting from gain of a rearranged X chromosome in a female fetus: pathogenic or not?

Maria Yiu, Zhongxia Qi, Anita Ki, Jingwei Yu

Abstract readCase Reports

In one paragraph

Article in Molecular cytogenetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it

0cells of the map it votes in

0citing papers in PubMed

–field-weighted citation impact

1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Maria YiuDepartment of Laboratory Medicine, University of California, San Francisco. 185 Berry Street, Suite# 290, Campus Box 0134, San Francisco, CA 94107 USA.ORCID 0000-0002-0732-4492

Zhongxia QiDepartment of Laboratory Medicine, University of California, San Francisco. 185 Berry Street, Suite# 290, Campus Box 0134, San Francisco, CA 94107 USA.

Anita KiClinical Cytogenetics Laboratory, UCSF Medical Center, San Francisco, CA USA.

Jingwei YuDepartment of Laboratory Medicine, University of California, San Francisco. 185 Berry Street, Suite# 290, Campus Box 0134, San Francisco, CA 94107 USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Cytogenetic analysis of chorionic villous sampling revealed a mosaic karyotype with gain of a rearranged X chromosome. Microarray and additional studies indicated that the rearranged X carried an inverted duplication, a deletion and a satellited Xqter. Gain of this rearranged X was confirmed by follow-up amniocentesis and postnatal cord blood sample. A full-term infant girl was delivered and showed normal physical findings at both birth and 21-month follow-up examinations. Late replication studies demonstrated that the rearranged X was inactivated in all abnormal cells analyzed. Skewed X-inactivation may suppress the potentially deleterious effects of genomic imbalance; however, gain of X chromosomes, particularly rearranged X chromosomes, often presents challenges for prenatal genetic counseling. The gradation of clinical phenotype severity generally correlates with the number of additional X chromosomes. However, the X chromosome regions responsible for the abnormal phenotypes are poorly understood. This case will further elucidate the phenotypic effects of X inactivation and X chromosome abnormalities.

Indexed as

AmniocentesisArray CGHChorionic villus samplingGenetic counselingHigh risk pregnancyPrenatal diagnosisSex chromosome abnormalityX inactivation

Identifiers

PMID26213575

DOI10.1186/s13039-015-0160-5

PMCPMC4513972

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.