Literature DB >> 885535

De novo trisomy 9pter leads to q13.

N B Kardon, H R Salwen, M A Krauss, J G Davis, E C Jenkins.   

Abstract

A case of de novo trisomy 9p was observed. Cytogenetic analysis of G-, R-, Q-, and C-banded preparations revealed a karyotypic description of 47,XY,+del(9)(pter leads to q13). In addition to the principal characteristics of the 9p trisomy syndrome, the child presented with skeletal and urogenital abnormalities. It appears that certain clinical abnormalities are due to trisomy of 9q1.

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Mesh：

Year:  1977        PMID： 885535     DOI： 10.1007/bf00393577

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


  21 in total

1.  Trisomy 9p in a girl whose mother has a translocation t(9;20)(q12;p13).

Authors:  C Stoll; J M Levy; A Gardea
Journal:  Humangenetik       Date:  1975

2.  A case of trisomy 9p in a family with translocation 9/15.

Authors:  P Balícek; J Zizka; J Lichý
Journal:  Humangenetik       Date:  1975

3.  Physical and mental defect of chromosomal origin in four individuals of the same family. Trisomy for the short arm of 9.

Authors:  C E Blank; D C Colver; A M Potter; J McHugh; J Lorber
Journal:  Clin Genet       Date:  1975-04       Impact factor: 4.438

4.  Trisomy 9p due to paternal translocation, t(9;13) (q13;q12).

Authors:  A Schinzel; K Hayashi; W Schmid
Journal:  Humangenetik       Date:  1975-12-23

5.  Human Q and C chromosomal variations: distribution and incidence.

Authors:  W H McKenzie; H A Lubs
Journal:  Cytogenet Cell Genet       Date:  1975

6.  Trisomy 9p resulting from maternal 9/21 translocation.

Authors:  I Sŭbrt; B Blehová; B Pallová
Journal:  Hum Genet       Date:  1976-05-19       Impact factor: 4.132

7.  [Trisomy 9p : 2 further cases].

Authors:  C Turleau; J de Grouchy; F Chavin-Colin; M Roubin; H Langmaid
Journal:  Ann Genet       Date:  1974-09

8.  Rapid processing of primary embryonic tissues for chromosome banding pattern analysis.

Authors:  H P Klinger
Journal:  Cytogenetics       Date:  1972

9.  [4 cases of trisomy for the short arm of chromosome 9. Individualization of a new morbid entity].

Authors:  M O Rethoré; L Larget-Piet; D Abonyi; M Boeswillwald; R Berger; S Carpentier; J Cruveiller; B Dutrillau; J Lafourcade; M Penneau; J Lejeune
Journal:  Ann Genet       Date:  1970-12

10.  Possible complex translocation t(9;14;13) (q12;pl?;Q31) in mother of a child with 9-p trisomy syndrome.

Authors:  H Fujita; T Abe; K Yamamoto; J Furuyama
Journal:  Humangenetik       Date:  1974
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