Literature DB >> 457139

Terminal long-arm deletion of chromosome 1 in a male infant.

P S Dignan, S Soukup.   

Abstract

The clinical findings in a child with a terminal deletion (1) (q42 leads to qter) is described and compared with three cases with a similar chromosomal anomaly.

Entities:  

Mesh：

Year:  1979        PMID： 457139     DOI： 10.1007/bf00286898

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


  8 in total

1.  Retrospective and prospective epidemiological studies of 1500 karyotyped spontaneous human abortions.

Authors:  J Boué; P Lazar
Journal:  Teratology       Date:  1975-08

2.  Partial monosomy or trisomy resulting from crossing over within a rearranged chromosome 1.

Authors:  K L Garver; A M Ciocco; N A Turack
Journal:  Clin Genet       Date:  1976-12       Impact factor: 4.438

3.  Terminal (1)(q43) long-arm deletion of chromosome no. 1 in a three-year-old female.

Authors:  C B Mankinen; J W Sears; V R Alvarez
Journal:  Birth Defects Orig Artic Ser       Date:  1976

4.  Primary hypothyroidism, growth hormone deficiency and congenital malformations in a child with the karyotype 46,XY,del(1)(q25q32).

Authors:  M Koivisto; H K Akerblom; M Remes; A de La Chapelle
Journal:  Acta Paediatr Scand       Date:  1976-07

5.  [De novo interstitial deletion Del (1) (q24 q32.1) in a malformed child].

Authors:  C Turleau; M Roubin; F Chavin-Colin; M Satge; J de Grouchy
Journal:  Ann Genet       Date:  1974-12

6.  Terminal deletion of (1)(q42) and its phenotypical manifestations.

Authors:  M Andrle; A Erlach; W R Mayr; A Rett
Journal:  Hum Genet       Date:  1978-02-23       Impact factor: 4.132

7.  Terminal deletion of the long arm of chromosome 1 in a malformed newborn.

Authors:  E Kessel; R A Pfeiffer; W Blanke; J Schwarz
Journal:  Hum Genet       Date:  1978-06-27       Impact factor: 4.132

8.  Partial deletion of 1q, following a pericentric inversion, in a boy with multiple minor morphologic anomalies and mental retardation.

Authors:  G Schwanitz; P Schmid; C Hägele; H W Daffner; K P Grosse
Journal:  Acta Genet Med Gemellol (Roma)       Date:  1977
  8 in total
  1 in total

1.  New deletion syndrome: 1q43.

Authors:  R C Juberg; N R Haney; R Stallard
Journal:  Am J Hum Genet       Date:  1981-05       Impact factor: 11.025
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.