A further case of a 22;22 Robertsonian translocation associated with recurrent abortions

Mameli, M.; Cardia, S.; Milia, A; Seabright, Marina

doi:10.1007/bf00284771

Cited by 15 publications

(3 citation statements)

References 5 publications

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“…These 20 couples generated 28 fetuses with unbalanced chromosome constitutions, but none of them had trisomy 22. In contrast, studies of recurrent abortions have led to the detection of 22/22 and 141 22 familial translocations [Mameli et al, 1978;Fried et al, 19741. Thus, there is ample evidence that trisomy 22, except when mosaic, is exceptional beyond the first trimester of gestation.…”

Section: Discussionmentioning

confidence: 99%

Trisomy 22 mosaicism syndrome and Ullrich‐Turner stigmata

et al. 1986

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Mosaic trisomy 22, ascertained in three unrelated patients, was found to be associated with body asymmetry and signs of the Ullrich-Turner syndrome including short stature, ptosis, webbed neck, nevi, cubitus valgus, dysplastic nails, malformed great vessels, and abnormal ovaries. These anomalies in trisomy 22 mosaicism have not been emphasized heretofore. In each of our patients, trisomy 22 mosaicism was found only in fibroblasts. In one patient, the trisomy resulted from a paternal first meiotic nondisjunction, and in the 46,XX cells, both chromosomes 22 were of paternal origin.

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Section: Discussionmentioning

confidence: 99%

Trisomy 22 mosaicism syndrome and Ullrich‐Turner stigmata

et al. 1986

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“…This patient suggested the possibility that trisomy for genes on chromosome 22, especially distal to q13.1, could cause partial sex reversal. The haplo‐insufficiency for ribosomal genes from p13‐tel is unlikely to be causal and sexual ambiguity has not been reported with homozygosity for such deletions [Mameli et al, 1978].…”

Section: Introductionmentioning

confidence: 99%

Multiband feed using coaxial configuration

Bhattacharyya

Eliassi

Hansen

et al. 2011

Int J RF and Microwave Comp Aid Eng

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We present design, analysis and test results of a dual-aperture coaxial multiband feed horn that operates at S, Ku, K and Ka bands. The design objectives are to achieve aperture efficiencies of 85% for S and Ku bands and 60% for K and Ka bands and cross-polarization level of À20 dB within 30 degree off-boresight for all bands. These values are deduced primarily from the reflector geometry, À10 dB reflector edge taper and moderate cross-polarization requirements for the secondary patterns. In our design the Ku, K and Ka bands are launched through a multiflared circular horn while the S band is launched through a coaxial horn. A method of moment based software is developed to analyze the structure including mutual coupling between the apertures. It is found that the aperture impedance significantly affects the S-band performance. For the high frequency bands, the mutual coupling between the circular and coaxial apertures plays an important role. The simulated results including mutual coupling effects agree well with the measured data. The multiband feed design allows a compact, low weight, single offset reflector configuration as opposed to a Cassegrain antenna system that requires two separate feeds and a dichroic subreflector to accommodate such widely separated bands.

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“…This patient suggested the possibility that trisomy for genes on chromosome 22, especially distal to q13.1, could cause partial sex reversal. The haplo-insufficiency for ribosomal genes from p13-tel is unlikely to be causal and sexual ambiguity has not been reported with homozygosity for such deletions [Mameli et al, 1978]. Phelan et al [2003] recently reported a patient with velocardiofacial syndrome who was found to be a 46,XX male.…”

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confidence: 96%

Does chromosome 22 have anything to do with sex determination: Further studies on a 46,XX,22q11.2 del male

Erickson

Skinner

Jacquet

et al. 2003

American J of Med Genetics Pt A

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Several years ago, we presented a patient with true hermaphroditism and partial duplication of chromosome 22 and no evidence of SRY (Aleck et al. [1999: Am J Med Genet 85:2-4]). Recently a 46,XX male with velocardiofacial syndrome and a deletion of 22q11.2 and no evidence of Y chromosomal loci in blood DNA was reported (Phelan et al. [2003: Am J Med Genet 116A:77-79]). We have restudied this patient as he enters puberty. Because chromosomal deletions sometimes involve micro rearrangements of nearby material, we have extensively studied this individual's chromosome 22 looking for evidence of any gene duplication. We studied a number of variable number tandem repeat (VNTR) loci along chromosome 22 in the patient and both parents. Normal Mendelian inheritance of the VNTRs was found. We then used quantitative multiplex PCR of short fluorescent fragments (QMPSF) to delineate the 22q11.2 deletion in this patient (Jacquet et al. [2002: Hum Molec Genet 11:2243-2249]) and found a pattern of deletion typical of the velocardiofacial DiGeorge syndrome. Finally, the patient's DNA has been analyzed using a full coverage human chromosome 22 genomic microarray (array comparative genomic hybridization [CGH]) for evidence of rearrangements outside the classical velocardiofacial DiGeorge associated deletion (Buckley et al. [2002: Hum Molec Genet 11:3221-3229]). The array-CGH profile of this patient confirms the deletion encompassing the typically deleted region associated with the velocardiofacial DiGeorge syndrome and provides no support for additional gene copy number aberrations on 22q. Thus, there is no evidence of any chromosome 22 trisomic material. In this case, the rare events of sex reversal and 22q11.2 deletion may have occurred together by chance.

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A further case of a 22;22 Robertsonian translocation associated with recurrent abortions

Abstract: A case of 22;22 Robertsonian translocation, identified in the husband of a woman who had five early abortions, is reported.

Cited by 15 publications

References 5 publications

Trisomy 22 mosaicism syndrome and Ullrich‐Turner stigmata

Trisomy 22 mosaicism syndrome and Ullrich‐Turner stigmata

Multiband feed using coaxial configuration

Does chromosome 22 have anything to do with sex determination: Further studies on a 46,XX,22q11.2 del male

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