Literature DB >> 3612709

Duplication 14(q31----qter).

D M Carr, K Jones-Quartey, M V Vartanian, H Moore-Kaplan.   

Abstract

A 29 year old black female with delayed development and multiple congenital anomalies showing a duplication of 14(q31----qter) is presented. Although clinical features associated with partial duplication of the distal long arm of chromosome 14 are variable, there are some features which are distinctive of this chromosomal abnormality. The clinical findings of 14 cases with duplication distal 14q are compared in an effort to define a recognisable syndrome.

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Mesh：

Year:  1987        PMID： 3612709      PMCID： PMC1050105          DOI： 10.1136/jmg.24.6.372

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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

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

3.  Partial trisomy 14q24 leads to qter.

Authors:  D R Romain; L M Columbano-Green; R H Smythe; R G Parfitt; O Gebbie; C J Chapman; M Wall
Journal:  J Med Genet       Date:  1983-12       Impact factor: 6.318

4.  Duplication of the distal segment of 14q.

Authors:  J F Atkin; S Patil
Journal:  Am J Med Genet       Date:  1983-11

5.  [Distal trisomy 14q associated with agenesis of the corpus callosus and truncus arteriosus due to the maternal translocation t(5;14)(q13;q23q32) (author's transl)].

Authors:  M Geormaneanu; C Geormaneanu; A Walter-Rosianu; M Papuc
Journal:  Ann Genet       Date:  1981

6.  Partial trisomy 14 (q23 leads to qter) via segregation of a 14/X translocation.

Authors:  M M Cohen; J Charrow; N E Balkin; C J Harris
Journal:  Am J Hum Genet       Date:  1983-07       Impact factor: 11.025

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.  A child trisomic for the distal part of chromosome 14q.

Authors:  G Bridgman; L J Butler
Journal:  Arch Dis Child       Date:  1980-06       Impact factor: 3.791

9.  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
  9 in total
  3 in total

Review 1.  Distal trisomy 14q. I. Clinical and cytogenetical studies.

Authors:  S Gilgenkrantz; J Vigneron; M O Peter; J L Dufier; M Teboul; M Chery; G Keyeux; M P Lefranc
Journal:  Hum Genet       Date:  1990-10       Impact factor: 4.132

2.  14q32.3-qter trisomic segment: a case report and literature review.

Authors:  Nicoletta Villa; Agnese Scatigno; Serena Redaelli; Donatella Conconi; Paola Cianci; Clotilde Farina; Chiara Fossati; Leda Dalprà; Silvia Maitz; Angelo Selicorni
Journal:  Mol Cytogenet       Date:  2016-08-05       Impact factor: 2.009

Review 3.  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
  3 in total

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