Isodicentric Y chromosome: cytogenetic, molecular and clinical studies and review of the literature

Tuck‐Muller, Cathy M.; Chen, Harold; Martínez, José Enrique; Shen, C. C.; Li, Shibo; Kusyk, Christine J.; Batista, Denise; Bhatnagar, Y. M.; Dowling, Edmund A.; Wertelecki, Wladimir

doi:10.1007/bf00214200

Cited by 83 publications

(96 citation statements)

References 66 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The mosaicism may be more or less complex depending on its meiotic or post-zygotic origin and on its mitotic stability, and it usually includes of a 45, X cell line. Patients carrying a dicentric Y chromosome have a wide range of somatic, genital, and gonadal phenotypic manifestations, depending on the structure of the dicentric Y chromosome, the Yp and Yq breakpoints, and the types of mosaicism [5].…”

Section: Introductionmentioning

confidence: 99%

A non-mosaic isodicentric Y chromosome resulting from breakage and fusion at the Yq pseudo-autosomal region in a fetus

Kuan

Chen

et al. 2013

J Assist Reprod Genet

View full text Add to dashboard Cite

The dicentric Y chromosomes are the most commonly found in the structural aberration of Y chromosome. If the dicentric chromosome has completely symmetric arms, it is considered an isodicentric chromosome. The sites of breakage and fusion at Yp and Yq are variable, but breakage and fusion at the pseudo-autosomal region has never been reported. Herein we reported identification de novo isodicentric (Yq12) in a fetus. The fusion occurred at Yq pseudo-autosomal region very close the telomere and resulted in duplication of Y chromosome. The baby was grossly normal at birth. In conclusion, isodicentric Y chromosome could result from breakage and fusion at the Yq pseudo-autosomal region.

show abstract

Section: Introductionmentioning

confidence: 99%

A non-mosaic isodicentric Y chromosome resulting from breakage and fusion at the Yq pseudo-autosomal region in a fetus

Kuan

Chen

et al. 2013

J Assist Reprod Genet

View full text Add to dashboard Cite

show abstract

“…Because of its meiotic or post-zygotic origin and its mitotic instability, most (90%) idic(Y) chromosomes are present in mosaicism with a 45,X cell line. Depending on the breakpoints and the types of mosaicism, patients with idic(Y) have a wide range of phenotypic manifestations [Tuck-Muller et al, 1995;Iourov et al, 2008]. As previously reviewed, 40.9% of affected individuals were phenotypic females, 31.8% were phenotypic males and 27.3% had different degrees of intersexuality [Hsu, 1994].…”

Section: Discussionmentioning

confidence: 90%

Molecular and Clinical Characteristics of 26 Cases with Structural Y Chromosome Aberrations

Kim

Park

Ryu

et al. 2012

Cytogenet Genome Res

View full text Add to dashboard Cite

Structural abnormalities include various types of translocations, inversions, deletions, duplications and isochromosomes. Structural abnormalities of the Y chromosome are estimated to affect less than 1% of the newborn male population and are particularly hazardous for male reproductive function. The objective of this study was to characterize a group of patients with structural abnormalities of the Y chromosome. All patients who visited our laboratory between 2007 and 2010 underwent cytogenetic investigations. Among these, we detected 26 patients with structural abnormalities of the Y chromosome. To confirm the structural Y chromosome alterations, we used special bandings, FISH and multiplex PCR to detect Y chromosome microdeletions. Of the 26 patients presented here, 11 had an isodicentric Y chromosome, 7 had an inversion, 3 had a translocation, 2 had a derivative, 2 had a Yqs and 1 had a deletion. Sixteen were diagnosed with azoospermia, 8 as normal fertile males and 1 as a man who was unable to donate semen due to mental retardation. One of the patients having 45,X/46,X,idic(Y) was reported to be phenotypically female with primary amenorrhea and without uterus. Deletions of the AZFbc region were correlated with the sperm concentration (p < 0.05), but no correlation with the levels of FSH, LH, testosterone, prolactin and estradiol were found. The present report shows that the precise identification of structural Y chromosome aberrations may be clinically important for genetic counseling and assisted reproductive technology treatment.

show abstract

“…Once there is a 45,X cell line, regardless of whether there is a Yp, Yq or a free Y chromosome, there is an increased chance for that individual to be a phenotypic female with Turner syndrome or an individual with ambiguous genitalia [8]. Hence, it seems that the 45,X cell line is more influential in the determination of the sex phenotype in spite of the isodicentric Y bearing a major portion of the euchromatin including the SRY [4,[9][10][11][12][13].…”

Section: Discussionmentioning

confidence: 99%

Discrepancy between Cytogenetic and FISH Results on an Amniotic Fluid Sample of 45,X/46,X,idic(Y)(p11)

Gole

Anandakumar²,

Yang³

et al. 2000

Fetal Diagn Ther

View full text Add to dashboard Cite

The presence of abnormal ultrasound markers showing a thick nuchal fold with short middle phalanx of the fifth finger in an otherwise normal-appearing female fetus led to the sampling of amniotic fluid at 16 weeks gestation. Cytogenetic analysis with routine G-banding showed a 45,X karyotype in all 20 cells analysed from two flasks. However, fluorescent in situ hybridization on uncultured cells showed presence of a Y signal in 9 cells, 11 cells showing a single signal for the X. A cytogenetic analysis of the fetal blood at 23 weeks confirmed the presence of two cell lines, 45,X and 46,X,idic(Y)(p11). The couple opted to have the pregnancy terminated. However, the fetus was not available to carry out confirmatory tests.

show abstract

Isodicentric Y chromosome: cytogenetic, molecular and clinical studies and review of the literature

Cited by 83 publications

References 66 publications

A non-mosaic isodicentric Y chromosome resulting from breakage and fusion at the Yq pseudo-autosomal region in a fetus

A non-mosaic isodicentric Y chromosome resulting from breakage and fusion at the Yq pseudo-autosomal region in a fetus

Molecular and Clinical Characteristics of 26 Cases with Structural Y Chromosome Aberrations

Discrepancy between Cytogenetic and FISH Results on an Amniotic Fluid Sample of 45,X/46,X,idic(Y)(p11)

Contact Info

Product

Resources

About