Mild phenotypes associated with an unbalanced X‐autosome translocation, 46,X,der(X)t(X;8)(q28;q13)

Watanabe, Takafumi; Ishibashi, Makiho; Suganuma, Ryota; Ohara, Miki; Soeda, Shu; Komiya, Hiromi; Fujimori, Keiya

doi:10.1002/ccr3.1596

Cited by 10 publications

(7 citation statements)

References 15 publications

(17 reference statements)

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“…The use of more than one polymorphic locus to determine the XCI offered an advantage in overtaking the PCR artifacts that are inherent to the techniques (Bertelsen et al, 2011), as for the ZDHHC15 gene assay in our patient 2, allowing us to determine a heavily skewed inactivation for all the patients. By performing a late‐replication analysis using the incorporation of EdU, we showed that the heavily skewed XCI pattern occurred toward the derivative chromosome for all the patients (Table 1, Figure 1), as it was expected from previous reports of similar cases (Stankiewicz et al, 2006; Watanabe et al, 2018; Yatsenko et al, 2004; Yeung et al, 2014) and from their severe clinical picture.…”

Section: Discussionsupporting

confidence: 82%

Spread of X‐chromosome inactivation into autosomal regions in patients with unbalanced X‐autosome translocations and its phenotypic effects

Favilla

Meloni

Perez

et al. 2021

American J of Med Genetics Pt A

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Patients with unbalanced X-autosome translocations are rare and usually present a skewed X-chromosome inactivation (XCI) pattern, with the derivative chromosome being preferentially inactivated, and with a possible spread of XCI into the autosomal regions attached to it, which can inactivate autosomal genes and affect the patients' phenotype. We describe three patients carrying different unbalanced X-autosome translocations, confirmed by G-banding karyotype and array techniques. We analyzed their XCI pattern and inactivation spread into autosomal regions, through HUMARA, ZDHHC15 gene assay and the novel 5-ethynyl-2 0 -deoxyuridine (EdU) incorporation assay, and identified an extremely skewed XCI pattern toward the derivative chromosomes for all the patients, and a variable pattern of late-replication on the autosomal regions of the derivative chromosomes. All patients showed phenotypical overlap with patients presenting deletions of the autosomal late-replicating regions, suggesting that the inactivation of autosomal segments may be responsible for their phenotype. Our data highlight the importance of the XCI spread into autosomal regions for establishing the clinical picture in patients carrying unbalanced X-autosome translocations, and the incorporation of EdU as a novel and precise tool to evaluate the inactivation status in such patients.

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Section: Discussionsupporting

confidence: 82%

Spread of X‐chromosome inactivation into autosomal regions in patients with unbalanced X‐autosome translocations and its phenotypic effects

Favilla

Meloni

Perez

et al. 2021

American J of Med Genetics Pt A

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“…Although Asian eyes do not much differ in some other recorded features (eg, length and ellipticity), the presence of an epicanthal fold (a skin fold of the upper eyelid) is viewed as a unique Asian hallmark (the so‐called “slanted” eyes). This skin fold, found associated with a X‐autosomal translocation, is however present at a much lower frequency in some other ethnicities such as Africans and Europeans . Taking this phenotype as a unique and specific Asian trait is therefore questionable.…”

Section: Discussionmentioning

confidence: 99%

“…Of note, black/brown iris (eumelanin‐based) largely predominate, worldwide . Although the presence of an epicanthal fold in Asian subjects (the so‐called “slanted eyes”), linked to an X‐autosomal translocation is a common but variable trait, the latter can also be observed in other ethnicities, although at a lesser frequency.…”

Section: Introductionmentioning

confidence: 99%

Age‐related changes to characteristics of the human eyes in women from six different ethnicities

Flament

Francois

Seyrek³

et al. 2020

Skin Research and Technology

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The ocular region (eyes, eyelids, eyelashes, and eyebrows) owns clear esthetical properties, as potent vectors of attractiveness among humans. The latter aspect accounts for the numerous cosmetic products destined to adorn this anatomical region. This corrective procedure is anything but recent, magnified by the bust of Queen Nefertiti (Egyptian Museum, Berlin/Germany), of a deep and elegant glaze. Our six local R&D facilities,

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“…The spread of X-inactivation into the autosomal regions could affect the phenotype, which could lead to a more severe or a mild clinical presentation depending on the patient's chromosomal constitution. Watanabe et al reported a 34 years old female with mild phenotypes including congenital heart disease, epicanthal fold, mild intellectual disability, and menstrual irregularity associated with an unbalanced X-autosome translocation, 46,X,der(X)t(X;8)(q28;q13), and suspected that the patient had mild phenotypes due to the inactivation of the abnormal X chromosome 8q13-qter and the presence of a small deletion of Xq28-qter [ 19 ].…”

Section: Discussionmentioning

confidence: 99%

Molecular cytogenetic characterization of a de novo derivative chromosome X with an unbalanced t(X;9) translocation in a fetus and literature review

Kong

Shen

et al. 2022

Mol Cytogenet

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Partial trisomy 9p is one of the most frequent autosome anomalies in newborn infants featured by craniofacial dysmorphism, intellectual disability and psychomotor growth. Female patients carrying monosomy Xq usually show mild symptoms due to skewed X-chromosome inactivation (XCI). Unbalanced translocation between chromosome X and chromosome 9 is rare in prenatal diagnosis. The skewed inactivation of abnormal X would spread into the extra segment of chromosome 9 presented in the der(X) leading to mild phenotypes. We reported on a fetus with high risk of trisomy 9p(13.32 Mb 9p23-p24.3 duplication)suggested by noninvasive prenatal testing (NIPT), the fetus was normal by ultrasonography. G-banding with trypsin-giemsa (GTG), copy number variations sequencing (CNV-seq) and fluorescence in situ hybridization (FISH) were carried out to delineate the nature of rearrangement. Final karyotype of the fetus was identified as 46,X,der(X)t(X;9)(q27;p23)dn. An unbalanced X-autosome translocation with a deletion of Xqter-q27.2 and a duplication of 9pter-p23 led to mild phenotypes with no obvious alteration by prenatal ultrasonography, or obvious pathological alterations after pregnancy termination.

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Mild phenotypes associated with an unbalanced X‐autosome translocation, 46,X,der(X)t(X;8)(q28;q13)

Cited by 10 publications

References 15 publications

Spread of X‐chromosome inactivation into autosomal regions in patients with unbalanced X‐autosome translocations and its phenotypic effects

Spread of X‐chromosome inactivation into autosomal regions in patients with unbalanced X‐autosome translocations and its phenotypic effects

Age‐related changes to characteristics of the human eyes in women from six different ethnicities

Molecular cytogenetic characterization of a de novo derivative chromosome X with an unbalanced t(X;9) translocation in a fetus and literature review

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