Abstract:
:We describe a pedigree in which four male members are affected by a contiguous gene abnormality involving the short arm of the X chromosome (Xp22.32). Bivariate flow cytometry of lymphoblastoid cell lines from two of these individuals and a normal male showed a 6-7 megabase deletion in affected males, and high resolution chromosomal G-banding of an obligate heterozygote showed the deletion to reside in the Xp22.32 region. Affected members had X-linked ichthyosis due to steroid sulphatase deficiency, Kallmann's syndrome, but no ocular albinism. In two out of four affected individuals studied, there was unilateral renal agenesis. Deletion analysis using the Xp22.32 markers MIC2, DXS31, DXS 89, GMGX9, DXS278, DXS143, and DXS9 showed that the deletion extended from DXS31 to DXS143 (inclusive). The absence of ocular albinism in this pedigree shows conclusively that the X-linked ocular albinism gene resides proximal to the DXS143 locus. Further, the inconstant association of unilateral renal agenesis with X-linked Kallmann's syndrome, even when the latter is caused by a complete deletion of the gene, suggests that the absence of the X-linked Kallmann gene can be compensated in renal development.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Bouloux PM,Kirk J,Munroe P,Duke V,Meindl A,Hilson A,Grant D,Carter N,Betts D,Meitinger Tdoi
10.1111/j.1399-0004.1993.tb04442.xsubject
Has Abstract,Author List Incompletepub_date
1993-04-01 00:00:00pages
169-73issue
4eissn
0009-9163issn
1399-0004journal_volume
43pub_type
杂志文章abstract::A 15-year-old male was referred for management of scoliosis secondary to congenital vertebral anomalies. Cytogenetic analysis was performed because of multiple congenital malformations. The patient was found to have a mosaic 46,XY/48,XXY,+8 chromosome complement with the characteristic clinical and dermatoglyphic feat...
journal_title:Clinical genetics
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doi:10.1111/j.1399-0004.1981.tb01808.x
更新日期:1981-07-01 00:00:00
abstract::The concurrence of a short arm isochromosome and a translocation of the entire long arm of the same chromosome to a telomere of another chromosome, implying trisomy for 4p, 5p, 7p, 9p, 10p or 12p, has been described in 13 patients. We have now used fluorescence in situ hybrization (FISH) to better characterize one of ...
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1982.tb01416.x
更新日期:1982-08-01 00:00:00
abstract::A 36-year-old man with schizoaffective disorder was found to have a de novo 46 XY inv (9) (q31.2q34.3). Phenotypical abnormalities are short stature, depressed nasal bridge, hypertelorism and slender shoulders. Paracentric inversion of chromosome 9 is a rare chromosome aberration. This case suggests a new candidate re...
journal_title:Clinical genetics
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1978.tb02133.x
更新日期:1978-10-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1987.tb02762.x
更新日期:1987-01-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1034/j.1399-0004.2003.00082.x
更新日期:2003-06-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/j.1399-0004.1994.tb04035.x
更新日期:1994-06-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1985.tb00378.x
更新日期:1985-08-01 00:00:00
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doi:10.1111/j.1399-0004.1986.tb00601.x
更新日期:1986-09-01 00:00:00
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pub_type: 杂志文章,评审
doi:10.1111/j.1399-0004.1998.tb03764.x
更新日期:1998-12-01 00:00:00
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更新日期:2019-07-01 00:00:00
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pub_type: 杂志文章
doi:10.1111/j.1399-0004.1989.tb03183.x
更新日期:1989-09-01 00:00:00
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pub_type: 杂志文章
doi:10.1034/j.1399-0004.1999.550304.x
更新日期:1999-03-01 00:00:00
abstract::Robinow Syndrome (RS), a rare skeletal dysplasia syndrome, is characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies. Both autosomal dominant and autosomal recessive patterns of inheritance have been reported. ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12401
更新日期:2015-01-01 00:00:00
abstract::A new modification of currently utilized methods of processing cell cultures of whole peripheral blood for obtaining chromosome preparations necessary for differential staining (Q, G and C) is proposed. After the usual hypotonic treatment of cultures, a 3%-5% aquaeous solution of glacial acetic acid is added to the ce...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1983.tb00077.x
更新日期:1983-10-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1989.tb03362.x
更新日期:1989-07-01 00:00:00
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更新日期:2013-04-01 00:00:00
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pub_type: 杂志文章,评审
doi:10.1111/j.1399-0004.1995.tb04073.x
更新日期:1995-09-01 00:00:00
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pub_type: 杂志文章
doi:10.1111/j.1399-0004.1996.tb02627.x
更新日期:1996-10-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:2011-04-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:
更新日期:1984-05-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/cge.12950
更新日期:2017-09-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1992.tb03654.x
更新日期:1992-03-01 00:00:00
abstract::Linkage analysis has been performed on a large South African family of British origin in which 39 persons in 6 generations had early onset Type I autosomal dominant retinitis pigmentosa (ADRP). Tight linkage was excluded between the disease and the D3S47 locus on chromosome 3. This finding is further evidence for gene...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1992.tb03406.x
更新日期:1992-06-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2006.00702.x
更新日期:2007-02-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12616
更新日期:2016-03-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1988.tb03441.x
更新日期:1988-03-01 00:00:00
abstract::Two cases of previously unreported simultaneous presence of A and B postaxial polydactyly in two brothers out of 12 affected members of a kindred are reported. The findings are consistent with the hypothesis that in this family A and b types of postaxial polydactyly are caused by a single gene rather than by two diffe...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1980.tb02294.x
更新日期:1980-11-01 00:00:00