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Literature DB >> 7424912

Interstitial 3p deletion in a child due to paternal paracentric inserted inversion.

H E Wyandt, R Kasprzak, J Ennis, K Willson, V Koch, P Schnatterly, W Wilson, T E Kelly.

Abstract

An infant with multiple anomalies and developmental delay during his first year was found to have an intersitital deletion of band p14 from the proximal short arm of chromosome 3. Examination of the father's chromosomes indicates an "inserted paracentric inversion" in chromosome 3 as the probable origin of the deletion in the child.

Entities: Disease Gene Species

Mesh：

Year: 1980 PMID： 7424912 PMCID： PMC1686100

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

4 in total

1. Partial trisomy 1 due to a "shift" and probable location of the Duffy (Fy) locus.

Authors: C G Palmer; J C Christian; A D Merritt
Journal: Am J Hum Genet Date: 1977-07 Impact factor: 11.025

2. A patient with a partial deletion of the short arm of chromosome 3.

Authors: M Verjaal; M B De Nef
Journal: Am J Dis Child Date: 1978-01

3. Chromosome 13 long arm interstitial deletion may result from maternal inverted insertion.

Authors: S F Hoegerman
Journal: Science Date: 1979-09-07 Impact factor: 47.728

4. Retinoblastoma with 13q- chromosomal deletion associated with maternal paracentric inversion of 13q.

Authors: R S Sparkes; H Muller; I Klisak
Journal: Science Date: 1979-03-09 Impact factor: 47.728

4 in total

13 in total

Review 1. Intrachromosomal insertions: a case report and a review.

Authors: K Madan; F H Menko
Journal: Hum Genet Date: 1992-04 Impact factor: 4.132

Review 2. Homozygous paracentric inversion 12 in a mentally retarded boy: a case report and review of the literature.

Authors: H A Price; S H Roberts; K M Laurence
Journal: Hum Genet Date: 1987-02 Impact factor: 4.132

3. Interstitial deletion of the short arm of chromosome 3. Fetal pathology and exclusion of the gene for beta-galactosidase-1 (GLB-1) from 3(p11----p14.2).

Authors: J M Hertz; W Coerdt; N Hahnemann; M Schwartz
Journal: Hum Genet Date: 1988-08 Impact factor: 4.132

Review 9. Paracentric inversions: a review.

Authors: K Madan
Journal: Hum Genet Date: 1995-11 Impact factor: 4.132

10. Cytogenetics of an intrachromosomal transposition in Neurospora.

Authors: D D Perkins; B C Turner; E G Barry; V C Pollard
Journal: Chromosoma Date: 1995-12 Impact factor: 4.316

Interstitial 3p deletion in a child due to paternal paracentric inserted inversion.

1. Partial trisomy 1 due to a "shift" and probable location of the Duffy (Fy) locus.

2. A patient with a partial deletion of the short arm of chromosome 3.

3. Chromosome 13 long arm interstitial deletion may result from maternal inverted insertion.

4. Retinoblastoma with 13q- chromosomal deletion associated with maternal paracentric inversion of 13q.

Review 1. Intrachromosomal insertions: a case report and a review.

Review 2. Homozygous paracentric inversion 12 in a mentally retarded boy: a case report and review of the literature.

3. Interstitial deletion of the short arm of chromosome 3. Fetal pathology and exclusion of the gene for beta-galactosidase-1 (GLB-1) from 3(p11----p14.2).

4. A familial paracentric inversion: a short review of the current status.

5. Familial paracentric inversion inv(2)(q31q36).

Review 6. Interstitial Chromosome 3p13p14 Deletions: An Update and Review.

7. Pure partial trisomy of the short arm of chromosome 5.

8. Paracentric inversions in man.

Review 9. Paracentric inversions: a review.

10. Cytogenetics of an intrachromosomal transposition in Neurospora.