Literature DB >> 1165102

Partial trisomy 9q: a new syndrome.

C Turleau, J de Grouchy, F Chavin-Colin, M Roubin, P E Brissaud, G Repessé, A Safar, P Borniche.   

Abstract

Two unrelated patients with a strikingly similar phenotype (low birth weight and poor thriving; mental retardation; dolichocephaly; beaked nose; deeply set eyes; prominent maxilla and receding small chin; long fingers with a peculiar clench) were partially trisomic for two different segments of 9q. The segment found to be trisomic in both patients is small and corresponds to the q31q32 region. This new syndrome is compared to observations of trisomy 9 reported in the literature.

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Year:  1975        PMID： 1165102     DOI： 10.1007/bf00297629

Source DB:  PubMed          Journal:  Humangenetik        ISSN： 0018-7348


  13 in total

1.  [Trisomy 9p : 2 further cases].

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

2.  Localization of sister chromatid exchanges in human chromosomes.

Authors:  S A Latt
Journal:  Science       Date:  1974-07-05       Impact factor: 47.728

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

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

4.  An unbalanced 4q-21q translocation identified by the R but not by the G and Q chromosome banding techniques.

Authors:  B Dutrillaux; J Jonasson; K Laurèn; J Lejeune; J Lindsten; G B Petersen; P Saldaña-Garcia
Journal:  Ann Genet       Date:  1973-03

5.  [A new technic of analysis of the human karyotype].

Authors:  B Dutrillaux; J Lejeune
Journal:  C R Acad Hebd Seances Acad Sci D       Date:  1971-05-17

6.  Staining of satellite DNA in metaphase chromosomes.

Authors:  J J Yunis; L Roldan; W G Yasmineh; J C Lee
Journal:  Nature       Date:  1971-06-25       Impact factor: 49.962

7.  A case of trisomy 9.

Authors:  M Feingold; L Atkins
Journal:  J Med Genet       Date:  1973-06       Impact factor: 6.318

8.  Trisomy 9 mosaicism in a newborn infant with multiple malformations.

Authors:  P Bowen; K L Ying; G S Chung
Journal:  J Pediatr       Date:  1974-07       Impact factor: 4.406

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.  Mosaic-trisomy and pericentric inversion of chromosome 9 in a malformed boy.

Authors:  A Schinzel; K Hayashi; W Schmid
Journal:  Humangenetik       Date:  1974
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  16 in total

1.  Partial trisomy 9q--chromosomal syndrome.

Authors:  I Subrt; M Janovský; J Jodl
Journal:  Hum Genet       Date:  1976-10-28       Impact factor: 4.132

2.  Cytogenetic and molecular analysis of a de novo tandem duplication of chromosome 21.

Authors:  J L Blouin; A Aurias; N Créau-Goldberg; F Apiou; C Alcaide-Loridan; A Bruel; M Prieur; J Kraus; J M Delabar; P M Sinet
Journal:  Hum Genet       Date:  1991-12       Impact factor: 4.132

3.  Phenotypical manifestations of partial trisomy 9 and monosomy 4 in two siblings.

Authors:  Matthew Vanlandingham; Tuan V Nguyen; Omar A Abdul-Rahman; Andrew Parent; Jun Zhang
Journal:  Neurol Sci       Date:  2008-11-27       Impact factor: 3.307

4.  Partial and complete trisomy 9: delineation of a trisomy 9 syndrome.

Authors:  G R Sutherland; R F Carter; L L Morris
Journal:  Hum Genet       Date:  1976-05-19       Impact factor: 4.132

5.  Partial 9q trisomy associated with a 9,21 translocation.

Authors:  Y Chamla; C Bilbeissi; M Micheau; J Battin
Journal:  Hum Genet       Date:  1977-09-22       Impact factor: 4.132

Review 6.  Simultaneous trisomy 9q3 and monosomy 5p in two children with der(5),t(5;9)(p15.1;q34.13): report of an extended family.

Authors:  D Wellesley; I D Young; P Cooke; D F Callen; A Hockey
Journal:  J Med Genet       Date:  1988-10       Impact factor: 6.318

7.  Pure partial trisomy for long arm of chromosome 9.

Authors:  M Faed; J Robertson; S Brown; P J Smail; R D Muckhart
Journal:  J Med Genet       Date:  1976-06       Impact factor: 6.318

8.  Identification of an unbalanced cryptic translocation t(9;17)(q34.3;p13.3) in a child with dysmorphic features.

Authors:  A M Estop; P A Mowery-Rushton; K M Cieply; S J Kochmar; C R Sherer; M Clemens; U Surti; E McPherson
Journal:  J Med Genet       Date:  1995-10       Impact factor: 6.318

9.  Duplication 9q34 syndrome.

Authors:  P W Allderdice; B Eales; H Onyett; W Sprague; K Henderson; P A Lefeuvre; G Pal
Journal:  Am J Hum Genet       Date:  1983-09       Impact factor: 11.025

10.  Complete trisomy 9 in two liveborn infants.

Authors:  S Mantagos; J W McReynolds; M R Seashore; W R Breg
Journal:  J Med Genet       Date:  1981-10       Impact factor: 6.318
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