Literature DB >> 1204233

Origin of a small metacentric chromosome: familial and cytogenic evidence.

K M Taylor, H L Wolfinger, M G Brown, D L Chadwick.   

Abstract

A family is described in which the mother has an 18p- chromosome, one normal 18, and a probable i(18p). One of the daughters of this woman inherited the 18p- chromosome, and her phenotype resembles that of other 18p- cases. The other daughter inherited the presumed i(18p) chromosome, and her phenotype resembles that of some cases with extra, small metacentric chromosomes. The clinical, chromosomal, and familial evidence suggest that these abnormal chromosomes originated in the occurrence of one transverse break of the centromere and subsequent misdivision of a chromosome 18 in an earlier generation of this family. According to this interpretation, the mother is trisomic for 18p, one daughter is monosomic and the other daughter is tetrasomic for this chromosomal region.

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Year:  1975        PMID： 1204233     DOI： 10.1111/j.1399-0004.1975.tb01515.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  18 in total

Review 1.  Centric fission--simple and complex mechanisms.

Authors:  Jo Perry; Howard R Slater; K H Andy Choo
Journal:  Chromosome Res       Date:  2004       Impact factor: 5.239

Review 2.  Chromosome imbalance, normal phenotype, and imprinting.

Authors:  L Bortotto; E Piovan; R Furlan; H Rivera; O Zuffardi
Journal:  J Med Genet       Date:  1990-09       Impact factor: 6.318

Review 3.  Cardiac malformation of partial trisomy 7p/monosomy 18p and partial trisomy 18p/monosomy 7p in siblings as a result of reciprocal unbalanced malsegregation--and review of the literature.

Authors:  Beate Schmidt; Floris Udink ten Cate; Michael Weiss; Udo Koehler
Journal:  Eur J Pediatr       Date:  2012-07       Impact factor: 3.183

4.  De novo isochromosome 18p in a female dysmorphic child.

Authors:  Smitha Ramegowda; Harshavardhan M Gawde; Abbas Hyderi; Mysore R Savitha; Zareen M Patel; Balasundaram Krishnamurthy; Nallur B Ramachandra
Journal:  J Appl Genet       Date:  2006       Impact factor: 3.240

5.  The isochromosome 18p syndrome: confirmation of cytogenetic diagnosis in nine cases by in situ hybridization.

Authors:  D F Callen; C J Freemantle; M L Ringenbergs; E Baker; H J Eyre; D Romain; E A Haan
Journal:  Am J Hum Genet       Date:  1990-09       Impact factor: 11.025

6.  Tetrasomy 18p in a male dysmorphic child in southeast Turkey.

Authors:  Mahmut Balkan; Hatun Duran; Turgay Budak
Journal:  J Genet       Date:  2009-12       Impact factor: 1.166

7.  Tetrasomy 18p de novo: identification by FISH with conventional and microdissection probes and analysis of parental origin and formation by short sequence repeat typing.

Authors:  T Eggermann; H Engels; B Moskalonek; M M Nöthen; J Müller-Navia; E Schleiermacher; G Schwanitz; S Stengel-Rutkowski
Journal:  Hum Genet       Date:  1996-05       Impact factor: 4.132

8.  The origin and behavior of two isodicentric bisatellited chromosomes.

Authors:  D L Van Dyke; L Weiss; M Logan; G S Pai
Journal:  Am J Hum Genet       Date:  1977-05       Impact factor: 11.025

9.  Forty four probands with an additional "marker" chromosome.

Authors:  K E Buckton; G Spowart; M S Newton; H J Evans
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

10.  Significance of detection of extra metacentric microchromosome in amniotic cell culture.

Authors:  R Bernstein; C Hakim; B Hardwick; G T Nurse
Journal:  J Med Genet       Date:  1978-04       Impact factor: 6.318
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