Literature DB >> 2953897

Interstitial deletion 1p in a 30 year old woman.

M B Petersen, M Warburg.   

Abstract

High resolution chromosome analysis showed the karyotype 46,XX,del(1)(p22.1 p31.2) in a 30 year old woman with psychomotor retardation and various malformations. Determination of the enzyme phosphoglucomutase 1 (PGM1) showed that she was a heterozygote. Three other cases of interstitial deletion 1p have been reported previously, and one of these cases had several features in common with our case, suggesting a distinct syndrome.

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Year:  1987        PMID： 2953897      PMCID： PMC1050002          DOI： 10.1136/jmg.24.4.229

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


  9 in total

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Authors:  H Schönenberg; M Habedank
Journal:  Monatsschr Kinderheilkd       Date:  1974-12

2.  [An uncommon malformation-retardation syndrome with "sheep-like face" and associated with autosomal structural aberration (author's transl)].

Authors:  H R Wiedemann; M Tolksdorf
Journal:  Klin Padiatr       Date:  1973-09       Impact factor: 1.349

3.  A large deletion of chromosome no. 1 (46,XY,1?--).

Authors:  D Aarskog
Journal:  J Med Genet       Date:  1968-12       Impact factor: 6.318

4.  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

5.  Monosomy 1pter.

Authors:  E Yunis; L Quintero; M Leibovici
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

6.  The ascertainment and implications of an unbalanced translocation in the neonate. Familial 1:15 translocation.

Authors:  D Hain; M Leversha; N Campbell; A Daniel; P A Barr; J G Rogers
Journal:  Aust Paediatr J       Date:  1980-09

7.  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

8.  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

9.  The level of 6-phosphogluconate dehydrogenase (6-PGD) activity in a patient with 1p terminal deletion suggests that the gene locus is not distal to sub-band p36.3 on chromosome 1.

Authors:  M W Steele; S L Wenger; L O Geweke; W L Golden
Journal:  Clin Genet       Date:  1984-01       Impact factor: 4.438
  9 in total
  6 in total

1.  Two cases of interstitial deletion 1p.

Authors:  M M Lai; M F Robards; A C Berry; C N Fear; C Hart
Journal:  J Med Genet       Date:  1991-02       Impact factor: 6.318

2.  De novo interstitial deletion of 1p (pter----p34.1::p32.3----qter).

Authors:  M Yoshino; Y Watanabe; N Harada; K Abe
Journal:  J Med Genet       Date:  1991-08       Impact factor: 6.318

3.  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

4.  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

5.  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

6.  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
  6 in total

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