Literature DB >> 730174

Unusual in vivo rearrangements of the Y chromosome with mitotic instability in vitro.

J P Fryns, J J Cassiman, H Van den Berghe.   

Abstract

An unusual structural rearrangement of the Y chromosome resulting in seven different cell lines was found in a male infant with coronal synostosis as the only major clinical symptom. At least three different events must have occurred to explain the patient's karyotype: nondisjunction, chromosome breakage followed by translocation, and tetraploidization followed by somatic recombination. In addition, the structurally abnormal Y chromosome appeared to be unstable in vitro.

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Year:  1978        PMID： 730174     DOI： 10.1007/bf00394301

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  18 in total

1.  X monosomy and 21 trisomy in a sibship.

Authors:  A Broustet; F Serville; P Roger; M Gachet
Journal:  Humangenetik       Date:  1975

2.  [45,X/46,SYq dic-Sexchromosome mosaic].

Authors:  R O Frey; E M Bühler; U K Bühler; G R Stalder
Journal:  Humangenetik       Date:  1975

3.  A mitotically unstable human dicentric Y chromosome in a male pseudohermaphrodite.

Authors:  P D Buchanan; H E Wyandt; A J D'Ercole; K W Rao; M L Hartsell
Journal:  Cytogenet Cell Genet       Date:  1976

4.  Turner's syndrome and 46,X,i(Yq) karyotype.

Authors:  N C Magnelli; A M Vianna-Morgante; O Frota-Pessoa; M G Taboada-Lopez
Journal:  J Med Genet       Date:  1974-12       Impact factor: 6.318

5.  45,X-45,X, ace(?Yp)plus-46,X,r(Y) in a phenotypically normal newborn male.

Authors:  U Ruthner; E Golob
Journal:  Humangenetik       Date:  1974-05-17

6.  Deletion of the long arms of the Y chromosome with normal male development and intelligence.

Authors:  H Langmaid; K M Laurence
Journal:  J Med Genet       Date:  1974-06       Impact factor: 6.318

7.  The influence of inactive chromosomes on human development. Anomalous sex chromosome complements and the phenotype.

Authors:  P Barlow
Journal:  Humangenetik       Date:  1973

8.  Minute Y chromosome.

Authors:  R B Surana; P Forbath; P E Conen
Journal:  Ann Genet       Date:  1971-06

9.  Four new cases of Dicentric Y chromosomes.

Authors:  F Giraud; J F Mattei; C Lucas; M G Mattei
Journal:  Hum Genet       Date:  1977-05-10       Impact factor: 4.132

10.  Structural abnormalities of the Y chromosome in man.

Authors:  P A Jacobs; A Ross
Journal:  Nature       Date:  1966-04-23       Impact factor: 49.962
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  2 in total

Review 1.  Localisation of male determining factors in man: a thorough review of structural anomalies of the Y chromosome.

Authors:  R M Davis
Journal:  J Med Genet       Date:  1981-06       Impact factor: 6.318

2.  Multiple minute marker chromosomes derived from Y identified by FISH in an intersexual infant.

Authors:  L Diekmann; K Palm; R A Pfeiffer; U Trautmann; W Scholz; E Schroers; P Vogt; M Köhler
Journal:  Hum Genet       Date:  1992 Sep-Oct       Impact factor: 4.132
  2 in total

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