Literature DB >> 9037346

Another patient with a deletion 14q11.2q13.

L Govaerts1, J Toorman, M V Blij-Philipsen, D Smeets.   

Abstract

We report another case of a de novo interstitial del (14) (q11.2q13). The patient's karyotype was 46,XY,del(14) (q11.2q13) [62]/46,XY [1]. In situ hybridization excluded any additional abnormalities such as a translocation or insertion. The phenotype of our patient is compared with those previously published. Comparison of the chromosome 14 short arm polymorphisms of the patient and his parents indicated that the paternal chromosome 14 was deleted.

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Year:  1996        PMID: 9037346

Source DB:  PubMed          Journal:  Ann Genet        ISSN: 0003-3995


  2 in total

Review 1.  Holoprosencephaly in deletions of proximal chromosome 14q.

Authors:  K Devriendt; J P Fryns; C P Chen
Journal:  J Med Genet       Date:  1998-07       Impact factor: 6.318

2.  Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children.

Authors:  Farah Zahir; Helen V Firth; Agnes Baross; Allen D Delaney; Patrice Eydoux; William T Gibson; Sylvie Langlois; Howard Martin; Lionel Willatt; Marco A Marra; Jan M Friedman
Journal:  J Med Genet       Date:  2007-06-01       Impact factor: 6.318

  2 in total

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