Familial X;Y translocation with distinct phenotypic consequences: Characterization using FISH and array CGH

Bukvić, Nenad; Carri, Valeria Delli; Cosola, Maria Luisa Di; Pustorino, Giuseppina; Cesarano, Carla; Chetta, Massimiliano; Santacroce, Rosa; Sarno, Michelina; Sessa, Francesco; Longo, Vittoria; Novelli, Antonio; Gentile, Mattia; Margaglione, Maurizio

doi:10.1002/ajmg.a.33437

Cited by 18 publications

(9 citation statements)

References 17 publications

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“…Such X;Y unbalanced translocations are very unusual structural chromosome rearrangements in females, with only ,70 cases reported previously. Males with t(X;Y) may have X-linked disorders, such as contiguous gene syndromes, depending on the extent of the Xp deletion, while most females are phenotypically normal except for short statute (Frints et al 2001;Bukvic et al 2010;Palka-Bayard-de-Volo et al 2012). However, our patient presented a classical TS phenotype, as seen in only a few patients (Kelly et al 1984;Kuznetzova et al 1994).…”

Section: Discussionmentioning

confidence: 67%

Y chromosome in Turner syndrome: detection of hidden mosaicism and the report of a rare X;Y translocation case

Bispo

Burégio-Frota

Santos

et al. 2014

Reprod. Fertil. Dev.

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Turner syndrome (TS) is a common genetic disorder in females associated with the absence of complete or parts of a second sex chromosome. In 5-12% of patients, mosaicism for a cell line with a normal or structurally abnormal Y chromosome is identified. The presence of Y-chromosome material is of medical importance because it results in an increased risk of developing gonadal tumours and virilisation. Molecular study and fluorescence in situ hybridisation approaches were used to study 74 Brazilian TS patients in order to determine the frequency of hidden Y-chromosome mosaicism, and to infer the potential risk of developing malignancies. Additionally, we describe one TS girl with a very uncommon karyotype 46,X,der(X)t(X;Y)(p22.3?2;q11.23) comprising a partial monosomy of Xp22.3?2 together with a partial monosomy of Yq11.23. The presence of cryptic Y-chromosome-specific sequences was detected in 2.7% of the cases. All patients with Y-chromosome-positive sequences showed normal female genitalia with no signs of virilisation. Indeed, the clinical data from Y-chromosome-positive patients was very similar to those with Y-negative results. Therefore, we recommend that the search for hidden Y-chromosome mosaicism should be carried out in all TS cases and not be limited to virilised patients or carriers of a specific karyotype.

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Section: Discussionmentioning

confidence: 67%

Y chromosome in Turner syndrome: detection of hidden mosaicism and the report of a rare X;Y translocation case

Bispo

Burégio-Frota

Santos

et al. 2014

Reprod. Fertil. Dev.

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“…Terminal deletions of Xp with variable sizes have been published in numerous studies. These are often isolated [Meindl et al, 1993;Boycott et al, 2003;Lonardo et al, 2007;Melichar et al, 2007;Ben Khelifa et al, 2013;Vrečar et al, 2015], sometimes resulting from t(X;Y) [Bukvic et al, 2010;Palka-Bayard-de-Volo et al, 2012]. One of the largest deletions including the OA1 locus has extended to 9.9 Mb and was described in a male with ichthyosis, Kallmann syndrome, ocular albinism, and CDPX1 [Meindl et al, 1993].…”

Section: Resultsmentioning

confidence: 99%

Familial X/Y Translocation Encompassing <b><i>ARSE</i></b> in Two Moroccan Siblings with Sensorineural Deafness

Amasdl¹,

Smaili²,

Natiq³

et al. 2017

Cytogenet Genome Res

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Unbalanced translocations involving X and Y chromosomes are rare and associated with a contiguous gene syndrome. The clinical phenotype is heterogeneous including mainly short stature, chondrodysplasia punctata, ichthyosis, hypogonadism, and intellectual disability. Here, we report 2 brothers with peculiar gestalt, short stature, and hearing loss, who harbor an X/Y translocation. Physical examination, brainstem acoustic potential evaluation, bone age, hormonal assessment, and X-ray investigations were performed. Because of their dysmorphic features, karyotyping, FISH, and aCGH were carried out. The probands had short stature, hypertelorism, midface hypoplasia, sensorineural hearing loss, normal intelligence as well as slight radial and ulnar bowing with brachytelephalangy. R-banding identified a derivative X chromosome with an abnormally expanded short arm. The mother was detected as a carrier of the same aberrant X chromosome. aCGH disclosed a 3.1-Mb distal deletion of chromosome region Xp22.33pter. This interval encompasses several genes, especially the short stature homeobox (SHOX) and arylsulfatase (ARSE) genes. The final karyotype of the probands was: 46,Y,der(X),t(X;Y)(p22;q12).ish der(X)(DXYS129-,DXYS153-)mat.arr[hg19] Xp22.33(61091_2689408)×1mat,Xp22.33(2701273_3258404)×0mat,Yq11.222q12 (21412851_59310245)×2. Herein, we describe a Moroccan family with a maternally inherited X/Y translocation and discuss the genotype-phenotype correlations according to the deleted genes.

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“…On the other hand, the males may have different abnormalities resulting from nullisomy of the deleted region and complete loss of the respective contigu- ous genes. The phenotype depends on the extent and position of the deletion resulting in variable association of clinical manifestations such as ichthyosis, chondrodysplasia punctata, hypogonadotropic hypogonadism with anosmia, ocular albinism, short stature, and mental retardation [Bernstein et al, 1978;Frints et al, 2001;Seidel et al, 2001;Doherty et al, 2003;Bukvic et al, 2010].…”

Section: Discussionmentioning

confidence: 99%

“…Cytogenetically detectable translocations involving X and Y chromosomes occur rarely in humans and are often associated with anomalies of gonadal development [McElreavey and Cortes, 2001;Bukvic et al, 2010]. The phenotypic expression of 46,X,t(X;Y) individuals is determined by the interaction of several factors, such as the sites of breakage on the X and Y chromosomes and the presence or absence of the testis-determining gene (SRY) , the mechanism producing the translocation, and the X inactivation pattern [Bernstein et al, 1980;Bernstein, 1985].…”

mentioning

confidence: 99%

Unique Karyotype: mos 46,X,dic(X;Y)(p22.33;p11.32)/ 45,X/45,dic(X;Y)(p22.33;p11.32) in an Egyptian Patient with Ovotesticular Disorder of Sexual Development

Mazen¹,

Kamel²,

Mohamed³

et al. 2013

Sex Dev

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Ovotesticular disorder of sexual development (OT-DSD) is an unusual form of DSD, characterized by the coexistence of testicular and ovarian tissue in the same individual. In this report, we present clinical, cytogenetic and molecular data of an Egyptian patient with ambiguous genitalia and OT-DSD, who had a unique karyotype comprising 3 different cell lines: mos 46,X,dic(X;Y)(p22.33;p11.32)/45,X/ 45,dic(X;Y)(p22.33;p11.32). This mosaic karyotype probably represents 2 different events: abnormal recombination between the X and Y chromosomes during paternal meiosis and postzygotic abnormality in mitotic segregation of the dic(X;Y) chromosome, resulting in a mosaic karyotype. The presence of the sex-determining region Y (SRY) gene explains the development of testicular tissue. On the other hand, other factors, including the presence of a 45,X cell line, partial SRY deletion, X inactivation pattern, and position effect, could be contributed to genital ambiguity. Explanation of the patient's phenotype in relation to the genotype is discussed with a literature review. We conclude that FISH analysis with X- and Y-specific probes and molecular analysis of the SRY gene are highly recommended and allow accurate diagnosis for optimal management of cases with ambiguous genitalia.

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Familial X;Y translocation with distinct phenotypic consequences: Characterization using FISH and array CGH

Cited by 18 publications

References 17 publications

Y chromosome in Turner syndrome: detection of hidden mosaicism and the report of a rare X;Y translocation case

Y chromosome in Turner syndrome: detection of hidden mosaicism and the report of a rare X;Y translocation case

Familial X/Y Translocation Encompassing <b><i>ARSE</i></b> in Two Moroccan Siblings with Sensorineural Deafness

Unique Karyotype: mos 46,X,dic(X;Y)(p22.33;p11.32)/ 45,X/45,dic(X;Y)(p22.33;p11.32) in an Egyptian Patient with Ovotesticular Disorder of Sexual Development

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