Molecular detection of a Yp/18 translocation in a 45,X holoprosencephalic male

Münke, Maximilian; Dc, Page; Lg, Brown; Ba, Armson; Eh, Zackai; Mt, Mennuti; Emanuel, B S

doi:10.1007/bf01790089

Cited by 32 publications

(9 citation statements)

References 39 publications

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“…In our proband (case 12), none of the loci from Yq has been detected and we assume a breakpoint in the proximal part of the long arm or within the centromeric Magenis et al 1987Vignetti et al 1977Seidel et al 1981Weber et al 1987Turleau et al 1980Andersson et al 1988Andersson et al 1988Schempp et al 1985Gal et al 1987Subrt and Blehova 1974Andersson et al 1988Disteche et al 1986Maserati et al 1986Mtinke et al 1988Callen et al 1987 This study region of the Y chromosome. So far, two further cases with a similar breakpoint on the Y chromosome have been reported (cases 5 and 10; Table 2).…”

Section: Discussionmentioning

confidence: 93%

A sterile male with 45,X0 and a Y;22 translocation

Arnemann

Schnittger

Hinkel³

et al. 1991

Hum Genet

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Cytogenetic analysis of a 20-year-old sterile male revealed a 45,X0 karyotype with no evidence for Y-chromosomal material on any of the chromosomes analysed by Q-, G- and C-banding. DNA analysis with 17 different Y chromosome-derived probes revealed the presence of Yp DNA sequences in the patient's genome. In situ hybridization with the Yp-derived probe pJA36B disclosed a translocation of Y-chromosomal material onto the short arm of a chromosome 22.

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Section: Discussionmentioning

confidence: 93%

A sterile male with 45,X0 and a Y;22 translocation

Arnemann

Schnittger

Hinkel³

et al. 1991

Hum Genet

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“…The few Y autosome translocations identified in phenotypic males with 45,X complement have resulted from the translocation of a part of the Y chromosome onto terminal regions of other chromosomes [Abbas et al, 1990;Abuelo and Barsel-Bower, 1988;Affara et al, 1987;Andersson et al, 1988;de la Chapelle et al, 1986;Davies et al, 1990;Distèche et al, 1986;Gal et al, 1987;Gimelli et al, 1996;Lau et al, 1985;Mü nke et al, 1988;Sasagawa et al, 1993;Sheehy et al, 1985;Van Hemel et al, 1992;Weber et al, 1987]. Furthermore, in most of these cases, the break in Y was identified to be in the proximal Yq region and resulted in the formation of dic der(Y/autosome).…”

Section: Discussionmentioning

confidence: 97%

Interstitial insertion of Y-specific DNA sequences including SRY into chromosome 4 in a 45,X male child

Yenamandra¹,

DeAngelo²,

Aviv³

et al. 1997

Am. J. Med. Genet.

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A 45,X chromosome complement was found in the lymphocytes and skin fibroblast cultures of a male infant with minor facial anomalies and gastrointestinal abnormalities. Fluorescence in situ hybridization (FISH) studies with DNA probes specific for the entire Y chromosome (painting) and SRY identified insertion of a short piece of Y chromosome DNA, including the SRY region, into a der(4) chromosome at 4p15. FISH studies with DNA probes specific for Wolf-Hirschhorn syndrome (WHS) and telomere of 4p indicated that these 2 regions were intact and that the insertion of Y DNA had occurred proximal to the WHS region. High-resolution chromosome analysis performed after FISH studies showed an altered banding pattern of 4p at the region of insertion. The typical Giemsa dark band of 4p15 was consistently replaced by a gray band; this probably indicates deletion of the distal part of 4p15. The consequences of the double-chromosome anomaly in this patient were discussed in relation to his phenotype.

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“…Mental retardation and multiple congenital abnormalities are more common if the translocation is with a non-acrocentric chromosome. [8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24] The patients with Y; acrosentric chromosome translocation usually suffer from infertility due to azoospermia or oligozoospermia. [25][26][27][28][29] In our patient, there is a dicentric chromosome with an unbalanced translocation between q12 region of Y chromosome and p10 region of chromosome 21 which results in loss of heterochromatic region of Y chromosome.…”

Section: Discussionmentioning

confidence: 99%

Translocation Y;21 in an Infertile Male Patient Having 45, X Karyotype: Case Report

Semerci¹,

Eser²,

Tufan³

et al. 2012

Turkiye Klinikleri J Med Sci

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1732 ale factor problems are observed in about 25-40% of the infertile couples in the population. The etiology of infertility is unknown in 30% of infertile males. Genetic causes of male infertility include numerical or constitutional chromosomal aberrations (inversion or translocation), microdeletions of Y chromosome, mitochondrial DNA mutations, monogenic diseases and multifactorial diseases. Chromosomal abnormalities are detected in 5.1% of all infertile men, 13.7% of azoospermic and 4.6% of oligospermic patients. Sex chromosome aneuplodies account for approximately 70% of chromosomal abnormalities seen in infertile males. A AB BS ST TR RA AC CT T A 30-year-old male patient referred to our clinic for unraveling the underlying etiology of the azoospermia. He had no unusual medical history. At physical examination, obesity, short neck and gynecomastia were noted. All hormone levels were normal except estradiol which was 2-fold higher than the upper limit. Having azoospermia in the spermiogram, scrotal ultrasonography was normal. Cytogenetic analysis and fluorescence in situ hybridization were performed subsequently, 45,X,add(21)(p10) and 45,X,add(21)(p10).ish der(Y;21) (q12;p10) were found, respectively. On C-banding, dicentric staining of translocated chromosome was observed. NOR banding was negative. Molecular genetics studies using multiplex polymerase chain reaction revealed the presence of Y chromosome sequences at SRY, AZFa, AZFb, AZFc regions.

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Molecular detection of a Yp/18 translocation in a 45,X holoprosencephalic male

Cited by 32 publications

References 39 publications

A sterile male with 45,X0 and a Y;22 translocation

A sterile male with 45,X0 and a Y;22 translocation

Interstitial insertion of Y-specific DNA sequences including SRY into chromosome 4 in a 45,X male child

Translocation Y;21 in an Infertile Male Patient Having 45, X Karyotype: Case Report

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