Literature DB >> 2227953

Distal trisomy 14q. I. Clinical and cytogenetical studies.

S Gilgenkrantz1, J Vigneron, M O Peter, J L Dufier, M Teboul, M Chery, G Keyeux, M P Lefranc.   

Abstract

Two cases of de novo duplication of the distal part of the long arm of chromosome 14 are reported. In one case, the partial trisomy of 14q is due to translocation of a segment (14q24 to 14qter) at the end of the satellite stalk of chromosome 14. The clinical picture is very severe. In the second case, a tandem duplication in 14 (q23----q32) is present with only minor malformations and mild mental retardation.

Entities:  

Mesh：

Year:  1990        PMID： 2227953     DOI： 10.1007/bf00193584

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


  20 in total

1.  Partial trisomy 14q due to familial t(14q-,11q+) translocation.

Authors:  J P Fryns; M Van Eygen; W Tanghe; H Van Den Berghe
Journal:  Hum Genet       Date:  1977-06-10       Impact factor: 4.132

2.  A prenatally discovered unbalanced translocation t(14;22) (q22 or 23;q13).

Authors:  J WAHLSTROM
Journal:  Hereditas       Date:  1974       Impact factor: 3.271

3.  Partial trisomy 14 following a balanced reciprocal translocation t(14q-;21q+).

Authors:  R A Pfeiffer; K Büttinghaus; H Struck
Journal:  Humangenetik       Date:  1973

4.  Familial pericentric inversion (14) (p11;q24) with a rec dup(q) in one offspring.

Authors:  P Kaiser; W Förster; P Steuernagel; U Hillig; K P Herberg
Journal:  Clin Genet       Date:  1984-07       Impact factor: 4.438

5.  [Distal 14q trisomy].

Authors:  C Turleau; J de Grouchy; F Chavin-Colin; M F Denavit; P Le Touzé
Journal:  Ann Genet       Date:  1983

6.  Distal trisomy 14q due to tandem duplication (q24 leads to q32).

Authors:  E Orye; H Van Bever; H Desimpel
Journal:  Ann Genet       Date:  1983

7.  Tandem duplication of chromosome 14 (q24 leads to q32) in male newborn with congenital malformations.

Authors:  J Nikolis; K Ivanović; M Kosanović
Journal:  Clin Genet       Date:  1983-04       Impact factor: 4.438

8.  Distal trisomy 14q syndrome; a case report.

Authors:  A Markkanen; M Somer; A M Nordström
Journal:  Clin Genet       Date:  1984-09       Impact factor: 4.438

9.  Localization of single copy DNA sequences of G-banded human chromosomes by in situ hybridization.

Authors:  M E Harper; G F Saunders
Journal:  Chromosoma       Date:  1981       Impact factor: 4.316

10.  Pericentric inversion of chromosome 14 and the risk of partial duplication of 14q (14q31 leads to 14qter).

Authors:  C Trunca; J M Opitz
Journal:  Am J Med Genet       Date:  1977
View more
  2 in total

1.  Distal trisomy 14q. II. Molecular study of the 14q32 locus in two cases of chromosome 14 rearrangements with partial duplication.

Authors:  G Keyeux; S Gilgenkrantz; G Lefranc; M P Lefranc
Journal:  Hum Genet       Date:  1990-10       Impact factor: 4.132

Review 2.  A Recurrent De Novo Terminal Duplication of 14q32 in Korean Siblings Associated with Developmental Delay and Intellectual Disability, Growth Retardation, Facial Dysmorphism, and Cerebral Infarction: A Case Report and Literature Review.

Authors:  Ji Yoon Han; Joonhong Park
Journal:  Genes (Basel)       Date:  2021-09-07       Impact factor: 4.096
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.