Literature DB >> 2182875

Terminal deletion (14)(q32.3): a new case.

N Telford1, D A Thomson, M J Griffiths, S Ilett, J L Watt.   

Abstract

A mildly dysmorphic, 2 year old girl with mental retardation was found to have a small de novo terminal deletion of the long arm of chromosome 14, del(14)(q32.3). She was found to have features in common with two previous terminal deletion cases and particularly with the well documented ring 14 syndrome, although seizures, a characteristic feature of ring 14, were notably absent.

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Year:  1990        PMID： 2182875      PMCID： PMC1017031          DOI： 10.1136/jmg.27.4.261

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


  5 in total

1.  A terminal deletion (14)(q31.1) in a child with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and mild mental retardation.

Authors:  F S Yen; P E Podruch; B Weisskopf
Journal:  J Med Genet       Date:  1989-02       Impact factor: 6.318

2.  [The r(14) syndrome. 3 new observations].

Authors:  S Gilgenkrantz; A Morali; M Vidailhet; R Saura; F Serville; D Fontan; C Moraine
Journal:  Ann Genet       Date:  1984

3.  Ring chromosome 14: a distinct clinical entity.

Authors:  R Schmidt; L Eviatar; H M Nitowsky; M Wong; S Miranda
Journal:  J Med Genet       Date:  1981-08       Impact factor: 6.318

4.  Retinal/macular pigmentation in conjunction with ring 14 chromosome.

Authors:  P J Howard; D Clark; J Dearlove
Journal:  Hum Genet       Date:  1988-10       Impact factor: 4.132

5.  Distal monosomy 14 not associated with ring formation.

Authors:  S J Hreidarsson; J Stamberg
Journal:  J Med Genet       Date:  1983-04       Impact factor: 6.318
  5 in total
  5 in total

Review 1.  Delineation of 14q32.3 deletion syndrome.

Authors:  A P Ortigas; C K Stein; L L Thomson; J J Hoo
Journal:  J Med Genet       Date:  1997-06       Impact factor: 6.318

Review 2.  A case of deletion 14(q22.1-->q22.3) associated with anophthalmia and pituitary abnormalities.

Authors:  J Elliott; E L Maltby; B Reynolds
Journal:  J Med Genet       Date:  1993-03       Impact factor: 6.318

3.  Array CGH defined interstitial deletion on chromosome 14: a new case.

Authors:  Maria Piccione; Vincenzo Antona; Valeria Scavone; Michela Malacarne; Mauro Pierluigi; Marina Grasso; Giovanni Corsello
Journal:  Eur J Pediatr       Date:  2010-01-21       Impact factor: 3.183

4.  Molecular analysis redefines three human chromosome 14 deletions.

Authors:  R F Wintle; T Costa; R H Haslam; I E Teshima; D W Cox
Journal:  Hum Genet       Date:  1995-05       Impact factor: 4.132

5.  De novo microdeletion on an inherited Robertsonian translocation chromosome: a cause for dysmorphism in the apparently balanced translocation carrier.

Authors:  D T Bonthron; S J Smith; J Fantes; C M Gosden
Journal:  Am J Hum Genet       Date:  1993-09       Impact factor: 11.025
  5 in total

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