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Literature DB >> 567620

Malformative syndrome associated with a ring 10 chromosome and a translocated 10q/19 chromosome.

J P Fryns, K De Boeck, J Jaeken, H van den Berghe.

Abstract

A male newborn with a ring 10 chromosome is described. The distal part of the long arm of chromosome 10, deleted during ring formation (10q25), is translocated to the short arm of chromosome 19.

Entities: Disease

Mesh：

Year: 1978 PMID： 567620 DOI： 10.1007/bf00293602

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

7 in total

1. Ring chromosomes in human beings.

Authors: H C WANG; J MELNYK; L T McDONALD; I A UCHIDA; D H CARR; B GOLDBERG
Journal: Nature Date: 1962-08-18 Impact factor: 49.962

2. A Correlation of Ring-Shaped Chromosomes with Variegation in Zea Mays.

Authors: B McClintock
Journal: Proc Natl Acad Sci U S A Date: 1932-12 Impact factor: 11.205

3. [Theoretical model of the distribution of duplications and of deficiencies in the ring chromosomes].

Authors: J Lejeune
Journal: C R Acad Hebd Seances Acad Sci D Date: 1967-05-29

4. Comparative behavior of ring chromosomes.

Authors: M L Kistenmacher; H H Punnett
Journal: Am J Hum Genet Date: 1970-05 Impact factor: 11.025

5. [Ring 6-chromosome: a nonspecific clinical picture].

Authors: B Sele; A Joannard; P Jalbert; J Boucharlat
Journal: Ann Genet Date: 1977-12

6. Physical retardation is associated with ring chromosome mosaicism: 46, XX,r(10)/45, XX,10 minus.

Authors: S Lansky; W Daniel; K Fleiszar
Journal: J Med Genet Date: 1977-02 Impact factor: 6.318

7. Multiple congenital anomalies associated with a ring 3 chromosome and translocated 3/X chromosome.

Authors: D Mukerjee; W J Burdette
Journal: Nature Date: 1966-10-08 Impact factor: 49.962

7 in total

13 in total

1. Three cases of ring chromosome 2, one derived from a paternal 2/6 translocation.

Authors: P Maraschio; C Danesino; A Garau; V Saputo; V Vigi; S Volpato
Journal: Hum Genet Date: 1979-04-27 Impact factor: 4.132

2. Ring chromosome 10 associated with multiple congenital malformations.

Authors: G Simoni; F Rossella; L Dalprà; G Visconti; C Piria-Schwarz
Journal: Hum Genet Date: 1979-10-01 Impact factor: 4.132

3. Interstitial deletion of the short arm of chromosome 2 in a moderately mentally retarded boy without gross clinical stigmata.

Authors: J P Fryns; P De Waele; H Van Den Berghe
Journal: Hum Genet Date: 1979-10-01 Impact factor: 4.132

Malformative syndrome associated with a ring 10 chromosome and a translocated 10q/19 chromosome.

1. Ring chromosomes in human beings.

2. A Correlation of Ring-Shaped Chromosomes with Variegation in Zea Mays.

3. [Theoretical model of the distribution of duplications and of deficiencies in the ring chromosomes].

4. Comparative behavior of ring chromosomes.

5. [Ring 6-chromosome: a nonspecific clinical picture].

6. Physical retardation is associated with ring chromosome mosaicism: 46, XX,r(10)/45, XX,10 minus.

7. Multiple congenital anomalies associated with a ring 3 chromosome and translocated 3/X chromosome.

1. Three cases of ring chromosome 2, one derived from a paternal 2/6 translocation.

2. Ring chromosome 10 associated with multiple congenital malformations.

3. Interstitial deletion of the short arm of chromosome 2 in a moderately mentally retarded boy without gross clinical stigmata.

4. A newborn with ring chromosome 10, aganglionic megacolon, and renal hypoplasia.

5. Cytogenetic survey in couples with recurrent fetal wastage.

6. Ring chromosome 10:46,XX,r(10)(p15 leads to q26).

7. Monosomy 10qter.

8. Chromosome r(10)(p15.3q26.12) in a newborn child: case report.

Review 9. Ring chromosome 10: report on two patients and review of the literature.

10. Ring chromosome 10 and its clinical features.