Literature DB >> 3430559

Interstitial del(13)(q21.3q31) associated with psychomotor retardation, eczema, and absent suck and swallowing reflex.

P J Peet1, R R Pereira, J O Van Hemel, A J Hoogeboom.   

Abstract

A patient with a deletion (13)(q21.3q31) showed only eczema and absent suck and swallowing reflex, in contrast to other well documented cases with a similar deletion. Apparently there is wide clinical variability in patients with deletions in this area.

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Year:  1987        PMID： 3430559      PMCID： PMC1050411          DOI： 10.1136/jmg.24.12.786

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


  7 in total

1.  Deletion long arm 13.

Authors:  J Nielsen; A Homma; F Christiansen; K Rasmussen; P Saldaña-Garcia
Journal:  Hum Genet       Date:  1977-07-26       Impact factor: 4.132

2.  [Interstitial deletion of a chromosome nr. 13: a new syndrome? (author's transl)].

Authors:  P Weisswichert; W Stögmann
Journal:  Klin Padiatr       Date:  1979-05       Impact factor: 1.349

3.  Deletion of band 13q21 is compatible with normal phenotype.

Authors:  J Couturier; N Morichon-Delvallez; B Dutrillaux
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

4.  Retinoblastoma, gross internal malformations, and deletion 13q14 leads to q31.

Authors:  E Yunis; R Zuñiga; E Ramírez
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

5.  Interstitial deletion 13q syndromes: a report on two unrelated patients.

Authors:  M Serena-Lungarotti; A Calabro; G Mariotti; P P Mastroiacovo; S Provenzano; B Dallapiccola
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

6.  Retinoblastoma and subband deletion of chromosome 13.

Authors:  J J Yunis; N Ramsay
Journal:  Am J Dis Child       Date:  1978-02

7.  Partial deletions and trisomies of chromosome 13; mapping of bands associated with particular malformations.

Authors:  B Noel; B Quack; M O Rethore
Journal:  Clin Genet       Date:  1976-06       Impact factor: 4.438
  7 in total

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