Literature DB >> 1002138

Partial trisomy 9q--chromosomal syndrome.

I Subrt, M Janovský, J Jodl.   

Abstract

The clinical features consisting mainly of enophthalmos, beaked nose, narrow palpebral fissures, receding chin, long fingers and toes, typical for chromsomal syndrome or partial trisomy 9q, were confirmed in a new case.

Entities:  

Mesh：

Year:  1976        PMID： 1002138     DOI： 10.1007/bf00278883

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


  5 in total

1.  Partial trisomy 9q: a new syndrome.

Authors:  C Turleau; J de Grouchy; F Chavin-Colin; M Roubin; P E Brissaud; G Repessé; A Safar; P Borniche
Journal:  Humangenetik       Date:  1975-09-23

2.  Trisomy 9 mosaicism with multiple congenital anomalies.

Authors:  R H Haslam; S P Broske; C M Moore; G H Thomas; C A Neill
Journal:  J Med Genet       Date:  1973-06       Impact factor: 6.318

3.  A case of trisomy 9.

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

4.  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

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

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

1.  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

2.  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

3.  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

4.  Linkage analysis of infantile pyloric stenosis and markers from chromosome 9q11-q33: no evidence for a major gene in this candidate region.

Authors:  E Chung; R Coffey; K Parker; P Tam; M E Pembrey; R M Gardiner
Journal:  J Med Genet       Date:  1993-05       Impact factor: 6.318

5.  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
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.