Literature DB >> 535887

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

M Serena-Lungarotti, A Calabro, G Mariotti, P P Mastroiacovo, S Provenzano, B Dallapiccola.   

Abstract

A partial monosomy 13 by interstitial deletion was found in the complement of two patients with mental retardation and mild dysmorphic features. Neither of the patients had a retinoblastoma, even though the second patient had a 13q14 deletion. The karyotype-phenotype correlation in the two patients suggests the need to reconsider the clinical profile of these rare chromosomal syndromes in a large series of subjects.

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Year:  1979        PMID： 535887     DOI： 10.1007/BF00278676

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  11 in total

1.  Chromosomal anomalies in patients with retinoblastoma.

Authors:  M G Wilson; A J Ebbin; J W Towner; W H Spencer
Journal:  Clin Genet       Date:  1977-07       Impact factor: 4.438

2.  Chromosome assignment of some human enzyme loci: mitochondrial malate dehydrogenase to 7, mannosephosphate isomerase and pyruvate kinase to 15 and probably, esterase D to 13.

Authors:  V van Heyningen; M Bobrow; W F Bodmer; S E Gardiner; S Povey; D A Hopkinson
Journal:  Ann Hum Genet       Date:  1975-01       Impact factor: 1.670

3.  Chromosomal deletion and retinoblastoma.

Authors:  A G Knudson; A T Meadows; W W Nichols; R Hill
Journal:  N Engl J Med       Date:  1976-11-11       Impact factor: 91.245

4.  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

5.  Chromosome banding patterns in an infant with 13q minus syndrome.

Authors:  T Ikeuchi; S Sonta; M Sasaki; M Hujita; K Tsunematsu
Journal:  Humangenetik       Date:  1974-03-28

6.  Retinoblastoma and long arm delection of chromosome 13. Attempts to define the deleted segment.

Authors:  E Orye; M J Delbeke; B Vandenabeele
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

7.  A case of D13 ring chromosome.

Authors:  P Cossu; G Diana; M Mameli; S Cardia; A Milia; G Floris; A Cao
Journal:  Hum Genet       Date:  1979-01-19       Impact factor: 4.132

8.  [Del (13) (q33). Exclusion of esterase D (ESD) from 13q33 and q34].

Authors:  C Turleau; J Séger; J de Grouchy; F Doré; J C Job
Journal:  Ann Genet       Date:  1978-09

9.  Retinoblastoma and subband deletion of chromosome 13.

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

10.  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
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  6 in total

Review 1.  13q13.1-q13.2 deletion in tetralogy of Fallot: clinical report and a literature review.

Authors:  Gregory Costain; Candice K Silversides; Christian R Marshall; Mary Shago; Nicholas Costain; Anne S Bassett
Journal:  Int J Cardiol       Date:  2010-07-03       Impact factor: 4.164

2.  Interstitial deletion of distal 13q associated with Hirschsprung's disease.

Authors:  M A Lamont; M Fitchett; N R Dennis
Journal:  J Med Genet       Date:  1989-02       Impact factor: 6.318

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.  Interstitial deletion of chromosome 13: prognosis and adult phenotype.

Authors:  J C Dean; S Simpson; D A Couzin; G S Stephen
Journal:  J Med Genet       Date:  1991-08       Impact factor: 6.318

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

Authors:  P J Peet; R R Pereira; J O Van Hemel; A J Hoogeboom
Journal:  J Med Genet       Date:  1987-12       Impact factor: 6.318

6.  EpCAM knockdown alters microRNA expression in retinoblastoma--functional implication of EpCAM regulated miRNA in tumor progression.

Authors:  Madhu Beta; Vikas Khetan; Nivedita Chatterjee; Ganesan Suganeswari; Pukhraj Rishi; Jyotirmay Biswas; Subramanian Krishnakumar
Journal:  PLoS One       Date:  2014-12-12       Impact factor: 3.240
  6 in total

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