Molecular detection of a translocation (Y;11)(q11.2;q24) in a 45,X male with signs of Jacobsen syndrome

Hemel, J. O. Van; Eussen, Bert; Swaay, E. Wesby-van; Oostra, Ben A.

doi:10.1007/bf02265294

Cited by 28 publications

(21 citation statements)

References 38 publications

(14 reference statements)

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“…Given the role of islet cell K ϩ channels in the regulation insulin secretion, CIR may be regarded as a candidate gene for any form of diabetes mapping to this chromosomal region. Interestingly, a 45,X male with a translocation (Y;11)(q11.2;q24) has been reported, and the phenotype includes hypoglycemia along with multiple dysmorphic features (29).…”

Section: ␤-Cell Inwardly Rectifying Kmentioning

confidence: 99%

Pancreatic Islet Cells Express a Family of Inwardly Rectifying K+ Channel Subunits Which Interact to Form G-protein-activated Channels

Ferrer¹,

Nichols²,

Makhina³

et al. 1995

Journal of Biological Chemistry

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Insulin secretion is associated with changes in pancreatic ␤-cell K ؉ permeability. A degenerate polymerase chain reaction strategy based on the conserved features of known inwardly rectifying K ؉ (K IR ) channel genes was used to identify members of this family expressed in human pancreatic islets and insulinoma. Three related human K IR transcript sequences were found: CIR (also known as cardiac KATP-1), GIRK1, and GIRK2 (KATP-2). The pancreatic islet CIR and GIRK2 full-length cDNAs were cloned, and their genes were localized to human chromosomes 11q23-ter and 21, respectively. Northern blot analysis detected CIR mRNA at similar levels in human islets and exocrine pancreas, while the abundance of GIRK2 mRNA in the two tissues was insufficient for detection by this method. Using competitive reverse-transcription polymerase chain reaction, CIR was found to be present at higher levels than GIRK2 mRNA in native purified ␤-cells. Xenopus oocytes injected with M2 muscarinic receptor (M2) plus either GIRK2 or CIR cRNA expressed only very small carbachol-induced currents, while co-injection of CIR plus GIRK2 along with M2 resulted in expression of carbachol-activated strong inwardly rectifying currents. Activators of K ATP channels failed to elicit currents in the presence or absence of co-expressed sulfonylurea receptor. These results show that two components of islet cell K IR channels, CIR and GIRK2, may interact to form heteromeric G-protein-activated inwardly rectifying K ؉ channels that do not possess the typical properties of K ATP channels.

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Section: ␤-Cell Inwardly Rectifying Kmentioning

confidence: 99%

Pancreatic Islet Cells Express a Family of Inwardly Rectifying K+ Channel Subunits Which Interact to Form G-protein-activated Channels

Ferrer¹,

Nichols²,

Makhina³

et al. 1995

Journal of Biological Chemistry

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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%

“…This gene is evolutionarily conserved and contains an open reading frame with a domain termed high mobility group box (HMG box) characteristic of DNA binding proteins [Payne and Cotinot, 1994;Whitfield et al, 1993].Reciprocal translocations involving a Y chromosome and an autosome are rare [Van Hemel et al, 1992, Sasagawa et al, 1993. Hormonal alterations and testicular histology in patients with Y-autosome translocations more commonly resemble those seen in autosomal rearrangements rather than in sex chromosome aneuploidy [Sasagawa et al, 1993].…”

mentioning

confidence: 94%

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 translocation (Y;11)(q11.2;q24) in a 45,X male with signs of Jacobsen syndrome

Cited by 28 publications

References 38 publications

Pancreatic Islet Cells Express a Family of Inwardly Rectifying K+ Channel Subunits Which Interact to Form G-protein-activated Channels

Pancreatic Islet Cells Express a Family of Inwardly Rectifying K+ Channel Subunits Which Interact to Form G-protein-activated Channels

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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