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Literature DB >> 6832782

Cytogenetic recombinants from a female carrying a paracentric inversion of the short arm of chromosome number 5.

E Valcárcel, J Benítez, P Martínez, J A Rey, A Sánchez Cascos.

Abstract

We present a family, identified through a girl with "Cri-du-chat syndrome", in which two different types of recombinants exist [del(5)(qter leads to p14:) and dup(5)(p13)]. They are due to a 5p paracentric inversion of maternal origin [inv(5)(pter p13)]. We discuss the relationship between the breakpoints and segregation of the inversion carrier, as well as the origin and the identification of the recombinants.

Entities: Gene Species

Mesh：

Year: 1983 PMID： 6832782 DOI： 10.1007/bf00285405

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

11 in total

1. [Reverse type of cri du chat disease: 5 p trisomy].

Authors: C Stoll; M O Rethore; C Laurent; J Lejeune
Journal: Arch Fr Pediatr Date: 1975 Jun-Jul

2. Partial trisomy-5p.

Authors: E Yunis; R Silva; H Egel; R Zúñiga; O M Torres de Caballero; E Ramirez; H Poveda de Ruiz
Journal: Hum Genet Date: 1978-08-31 Impact factor: 4.132

3. 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

4. Cytologic observations in 35 individuals with a 5p- karyotype.

Authors: E Niebuhr
Journal: Hum Genet Date: 1978-06-09 Impact factor: 4.132

5. Two cases of familial paracentric inversion in man associated with sex chromosome anomaly. 47,XXY,inv(5)(q21q32) and 45,X,inv(7)(q11.3q22.3).

Authors: N Canki; B Dutrillaux
Journal: Hum Genet Date: 1979-04-05 Impact factor: 4.132

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

Review 7. The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features.

Authors: E Niebuhr
Journal: Hum Genet Date: 1978-11-16 Impact factor: 4.132

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. De novo paracentric inversion in a microcephalic boy: 46,XY, inv(14)(q13q24).

Authors: J Jaeken; J P Fryns; L Standaert; P De Cock; H Van den Berghe
Journal: Ann Genet Date: 1980

10. 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

14 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

2. 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 3. 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

4. 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

5. 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

6. 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

Review 10. Paracentric inversions: a review.

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