Literature DB >> 2002484

Two cases of interstitial deletion 1p.

M M Lai1, M F Robards, A C Berry, C N Fear, C Hart.   

Abstract

We report two cases of interstitial deletion of the short arm of chromosome 1. The first was a 10 year old boy whose karyotype was 46,XY,del(1) (p22.1p31.2); the second was a 6 month old boy with a chromosome complement of 46,XY,del(1) (p22.3p31.3). A number of the malformations observed were common to both cases. There has been one previously reported case with the same breakpoints as our case 1 and a phenotype that was strikingly similar.

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Year:  1991        PMID： 2002484      PMCID： PMC1016783          DOI： 10.1136/jmg.28.2.128

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


  5 in total

Review 1.  Deletion of chromosome 1p: a short review.

Authors:  P J Howard; M Porteus
Journal:  Clin Genet       Date:  1990-02       Impact factor: 4.438

2.  Interstitial deletion 1p as a result of a de novo reciprocal 1p;2p translocation.

Authors:  J M Hertz; P H Jensen
Journal:  Ann Genet       Date:  1985

3.  Report of the committee on the genetic constitution of chromosome 1. Oslo Conference (1981): Sixth International Workshop on Human Gene Mapping.

Authors:  P J Cook; J L Hamerton
Journal:  Cytogenet Cell Genet       Date:  1982

4.  De novo interstitial deletion del(1)(p21p32).

Authors:  M Bene; A Duca-Marinescu; D Ioan; C Maximilian
Journal:  J Med Genet       Date:  1979-08       Impact factor: 6.318

5.  Interstitial deletion 1p in a 30 year old woman.

Authors:  M B Petersen; M Warburg
Journal:  J Med Genet       Date:  1987-04       Impact factor: 6.318
  5 in total
  5 in total

1.  Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the Literature.

Authors:  Carlos I Rivera-Pedroza; Jimena Barraza-García; Beatriz Paumard-Hernández; Julian Nevado; Carlos Orbea-Gallardo; Jaime Sánchez Del Pozo; Karen E Heath
Journal:  Mol Syndromol       Date:  2016-11-17

2.  Developmental delay and dysmorphic features associated with a previously undescribed deletion on chromosome 1.

Authors:  J S Barton; J O'Loughlin; R T Howell; R L'e Orme
Journal:  J Med Genet       Date:  1995-08       Impact factor: 6.318

3.  Partial Deletion of Chromosome 1p31.1 Including only the Neuronal Growth Regulator 1 Gene in Two Siblings.

Authors:  Ann Genovese; Devin M Cox; Merlin G Butler
Journal:  J Pediatr Genet       Date:  2015-03

4.  Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features.

Authors:  C Shaw-Smith; R Redon; L Rickman; M Rio; L Willatt; H Fiegler; H Firth; D Sanlaville; R Winter; L Colleaux; M Bobrow; N P Carter
Journal:  J Med Genet       Date:  2004-04       Impact factor: 6.318

5.  Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability.

Authors:  Jonathan D J Labonne; Yiping Shen; Il-Keun Kong; Michael P Diamond; Lawrence C Layman; Hyung-Goo Kim
Journal:  Mol Cytogenet       Date:  2016-03-17       Impact factor: 2.009
  5 in total

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