Literature DB >> 902660

Familial trisomy 9p and spinal muscular atrophy: clinical, cytogenetic and embryological findings.

M Tolksdorf, J Kunze, G Gross-Selbeck, K Sperling, R D Wegner, V Wieczorek, M Vogel.   

Abstract

The pre- and postnatal clinical, cytogenetic and embryological findings in a family suffering from trisomy 9p and spinal muscular atrophy are presented. The clinical picture of the "trisomy 9p" -syndrome is delineated. Concurrence of autosomal aberration and spinal muscular atrophy, probably of the Werdnig-Hoffmann type, is discussed.

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Mesh：

Year:  1977        PMID： 902660     DOI： 10.1007/bf00443119

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  32 in total

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

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

2.  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

3.  Arthrogryposis multiplex congenita. Case due to disease of the anterior horn cells.

Authors:  D B DRACHMAN; B Q BANKER
Journal:  Arch Neurol       Date:  1961-07

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.  [New system of chromosome banding: the T bands (author's transl)].

Authors:  B Dutrillaux
Journal:  Chromosoma       Date:  1973-04-27       Impact factor: 4.316

6.  A new case of trisomy for the short arm of No. 9 chromosome.

Authors:  C Baccichetti; R Tenconi
Journal:  J Med Genet       Date:  1973-09       Impact factor: 6.318

7.  [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

8.  [Placentation disorders and malformation (kyematopathologic aspects of teratogenesis)].

Authors:  K Kloos; M Vogel
Journal:  Z Geburtshilfe Gynakol       Date:  1969-08

9.  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

10.  Familial 'partial 9p' trisomy: six cases and four carriers in three generations.

Authors:  W R Centerwall; K S Miller; L M Reeves
Journal:  J Med Genet       Date:  1976-02       Impact factor: 6.318
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