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Literature DB >> 7160842

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

J J Hoo, R Lorenz, A Fischer, W Fuhrmann.

Abstract

Paracentric inversion of chromosome 7 was found in a female infant with multiple malformations and in her phenotypically normal mother. Examination of prometaphase chromosomes revealed an additional small dark band on the inverted chromosome 7 of the girl. It was assumed that an unequal crossing over at the base of a meiotic loop of chromosome 7 had occurred in the mother and resulted in a tiny interstitial duplication in the girl.

Entities: Disease Species

Mesh：

Year: 1982 PMID： 7160842 DOI： 10.1007/bf00282296

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

13 in total

1. Identification of chromosomal abnormalities by quinacrine-staining technique in patients with normal karyotypes by conventional analysis.

Authors: C del Solar; I A Uchida
Journal: J Pediatr Date: 1974-04 Impact factor: 4.406

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

Authors: V M Riccardi; G P Holmquist
Journal: Hum Genet Date: 1979-11 Impact factor: 4.132

3. [Goldenhar's syndrome and hydrocephalus (author's transl)].

Authors: R Thorbeck
Journal: Monatsschr Kinderheilkd Date: 1982-01 Impact factor: 0.323

4. Paracentric Inversion in man: personal experience and review of the literature.

Authors: J P Fryns; H Van den Berghe
Journal: Hum Genet Date: 1980 Impact factor: 4.132

5. Phenotypic effects of inherited balanced translocation.

Authors: Z Ying; C Zaiyu; L Chunyun; W H Lo; J M Opitz
Journal: Am J Med Genet Date: 1982-02

6. High resolution R- and G-banding on the same preparation.

Authors: B Dutrillaux; E Viegas-Pequignot
Journal: Hum Genet Date: 1981 Impact factor: 4.132

7. An international system for human cytogenetic nomenclature--high-resolution banding (1981). ISCN (1981). Report of the Standing Committee on Human Cytogenetic Nomenclature.

Authors:
Journal: Cytogenet Cell Genet Date: 1981

8. 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

9. A case of a paracentric inversion inv(7)(q11q22). Prenatal detection and counselling.

Authors: M A Ridler; S D Sutton
Journal: Prenat Diagn Date: 1981-01 Impact factor: 3.050

10. Mental retardation associated with "balanced" chromosome rearrangements.

Authors: S J Funderburk; M A Spence; R S Sparkes
Journal: Am J Hum Genet Date: 1977-03 Impact factor: 11.025

19 in total

Review 1. Human chromosome 8.

Authors: S Wood
Journal: J Med Genet Date: 1988-11 Impact factor: 6.318

Review 2. Genetic markers on chromosome 7.

Authors: L C Tsui
Journal: J Med Genet Date: 1988-05 Impact factor: 6.318

3. A paracentric inversion of 7q illustrating a possible interchromosomal effect.

Authors: J L Watt; K Ward; D A Couzin; G S Stephen; A Hill
Journal: J Med Genet Date: 1986-08 Impact factor: 6.318

Review 4. 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

5. A case of perineal hypospadias with paracentric inversion of chromosome 14.

Authors: A K Leung; J J Hoo
Journal: Eur J Pediatr Date: 1986-02 Impact factor: 3.183

6. A dicentric recombinant 9 derived from a paracentric inversion: phenotype, cytogenetics, and molecular analysis of centromeres.

Authors: M J Worsham; D A Miller; J M Devries; A R Mitchell; V R Babu; V Surli; L Weiss; D L Van Dyke
Journal: Am J Hum Genet Date: 1989-01 Impact factor: 11.025

7. Familial paracentric inversion of chromosome 15 (q15q24).

Authors: G Del Porto; E D'Alessandro; C De Matteis; R D'Innocenzo; M Baldi; A Pachi; F Cappa
Journal: J Med Genet Date: 1984-12 Impact factor: 6.318

8. 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

9. 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 10. Paracentric inversions: a review.

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