Literature DB >> 474633

Trisomy 14 mosaicism: case report and review.

V P Johnson, T Aceto, C Likness.   

Abstract

Complete or partial trisomy 14 is compatible with life. However, in the former case, mosaicism is probably always present. A case of trisomy 14 mosaicism is reported. Comparisons are made with other trisomy 14, trisomy 14 mosaicism, and duplication 14q cases previously reported. As a group, they share some clinical manifestations. The phenotype consists of multiple congenital anomalies, including microcephaly, broad nose, wide mouth, high or cleft palate, micrognathia, congenital heart disease, intrauterine growth retardation, and mental retardation. The present patient also has asthma, eczema, and developmental asymmetry.

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Year:  1979        PMID： 474633     DOI： 10.1002/ajmg.1320030404

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  13 in total

1.  Trisomy 14 mosaicism in a 2 year old girl.

Authors:  M B Petersen; L O Vejerslev; B Beck
Journal:  J Med Genet       Date:  1986-02       Impact factor: 6.318

Review 2.  Gene-rich chromosome regions and autosomal trisomy. A case of chromosome 3 trisomy mosaicism.

Authors:  E M Kuhn; G E Sarto; B J Bates; E Therman
Journal:  Hum Genet       Date:  1987-11       Impact factor: 4.132

3.  Asymmetry and skin pigmentary anomalies in chromosome mosaicism.

Authors:  C G Woods; A Bankier; J Curry; L J Sheffield; S F Slaney; K Smith; L Voullaire; D Wellesley
Journal:  J Med Genet       Date:  1994-09       Impact factor: 6.318

4.  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

5.  Reproductive outcomes of paracentric inversion carriers: report of a liveborn dicentric recombinant and literature review.

Authors:  E H Mules; J Stamberg
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

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.  Trisomy 14 mosaicism in a translocation 14q15q carrier: probable dissociation and isochromosome formation.

Authors:  M B Jenkins; R Kriel; L Boyd
Journal:  J Med Genet       Date:  1981-02       Impact factor: 6.318

8.  X chromosome constitution and the human female phenotype.

Authors:  E Therman; C Denniston; G E Sarto; M Ulber
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

Review 9.  Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism.

Authors:  I T Thomas; J L Frias; E S Cantu; C Z Lafer; D B Flannery; J G Graham
Journal:  Am J Hum Genet       Date:  1989-08       Impact factor: 11.025

10.  A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first.

Authors:  Antoinet C J Gijsbers; Janet Y K Lew; Cathy A J Bosch; Janneke H M Schuurs-Hoeijmakers; Arie van Haeringen; Nicolette S den Hollander; Sarina G Kant; Emilia K Bijlsma; Martijn H Breuning; Egbert Bakker; Claudia A L Ruivenkamp
Journal:  Eur J Hum Genet       Date:  2009-05-13       Impact factor: 4.246
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