Literature DB >> 511176

De novo 13q paracentric inversion in a boy with cleft palate and mental retardation.

V M Riccardi, G P Holmquist.   

Abstract

A paracentric inversion in chromosome 13, inv(13)(q12q22), is described in a boy with mild mental retardation and multiple minor anomalies. Bromodeoxyuridine-late replication studies showed no changes in the replication pattern of bands in the abnormal chromosome 13. The relation between the proband's phenotype and his inv(13) is unclear.

Entities:  

Mesh：

Year:  1979        PMID： 511176

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


  9 in total

1.  High resolution of human chromosomes.

Authors:  J J Yunis
Journal:  Science       Date:  1976-03-26       Impact factor: 47.728

2.  A mentally and physically retarded girl with a familial balanced reciprocal translocation t(7;13).

Authors:  S Knuutila; M Panelius; T Pihlaja
Journal:  Hereditas       Date:  1977       Impact factor: 3.271

3.  [Staining of human chromosomes with acridine orange after treatment with 5 bromodeoxyuridine].

Authors:  B Dutrillaux; C Laurent; J Couturier; J Lejeune
Journal:  C R Acad Hebd Seances Acad Sci D       Date:  1973-06-13

4.  Incidence and mutation rates of structural rearrangements of the autosomes in man.

Authors:  P A Jacobs; A Frackiewicz; P Law
Journal:  Ann Hum Genet       Date:  1972-03       Impact factor: 1.670

5.  De novo balanced reciprocal translocation 46,XY,t(6;8)(q13;q22).

Authors:  K Fried; M Rosenblatt; G Mundel
Journal:  J Med Genet       Date:  1977-04       Impact factor: 6.318

6.  Assignment of aberration breakpoints in banded chromosomes.

Authors:  J R Savage
Journal:  Nature       Date:  1977-12-08       Impact factor: 49.962

7.  Paracentric inversion of a human chromosome 7.

Authors:  H Shimba; K Ohtaki; K Tanabe; T Sofuni
Journal:  Hum Genet       Date:  1976-01-28       Impact factor: 4.132

8.  Two reciprocal translocations associated with microcephaly and retardation.

Authors:  E F Bell; D Warburton
Journal:  J Med Genet       Date:  1977-04       Impact factor: 6.318

9.  Apparently balanced de novo translocations in patients with abnormal phenotypes: report of 6 cases.

Authors:  A T Tharapel; R L Summitt; R S Wilroy; P Martens
Journal:  Clin Genet       Date:  1977-04       Impact factor: 4.438
  9 in total
  11 in total

Review 1.  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

2.  The use of subchromosome-length unique band sequences in the analysis of prophase chromosomes.

Authors:  D H Lockwood; D A Johnston; V M Riccardi; S O Zimmerman
Journal:  Am J Hum Genet       Date:  1988-12       Impact factor: 11.025

3.  Reproductive outcomes of paracentric inversion carriers: report of a liveborn dicentric recombinant and literature review.

Authors:  E H Mules; J Stamberg
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

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

Authors:  P A Venter; B Dawson; J L Du Toit; E L Smith; N Kritzinger; A S Landman; A S Cronje; J Op't Hof
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

5.  Chromosome translocations in couples with multiple spontaneous abortions.

Authors:  V V Michels; C Medrano; V L Venne; V M Riccardi
Journal:  Am J Hum Genet       Date:  1982-05       Impact factor: 11.025

6.  Tiny interstitial duplication of proximal 7q in association with a maternal paracentric inversion.

Authors:  J J Hoo; R Lorenz; A Fischer; W Fuhrmann
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

7.  Paracentric inversions in man.

Authors:  J P Fryns; A Kleczkowska; H Van den Berghe
Journal:  Hum Genet       Date:  1986-07       Impact factor: 4.132

Review 8.  Paracentric inversions: a review.

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

9.  Familial paracentric inversions inv(2)(q31q35) and inv(8)(q22.3q24.13) ascertained through reproductive abnormalities.

Authors:  C C Lin; P Bowen; J J Hoo
Journal:  Hum Genet       Date:  1987-01       Impact factor: 4.132

10.  Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases.

Authors:  D H Ledbetter; J T Mascarello; V M Riccardi; V D Harper; S D Airhart; R J Strobel
Journal:  Am J Hum Genet       Date:  1982-03       Impact factor: 11.025
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