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Literature DB >> 7241544

Inheritance of a ring 14 chromosome.

S B Riley, K E Buckton, S G Ratcliffe, J Syme.

Abstract

A family is described in which the mother, her two live offspring, and a therapeutically aborted fetus each had a ring 14 chromosomes. The two children were mentally retarded and the mother's intelligence was at the lower end of the normal range. In addition, the mother had two spontaneous abortions, one of which was shown to be chromosomally normal.

Entities: Disease Species

Mesh：

Year: 1981 PMID： 7241544 PMCID： PMC1048707 DOI： 10.1136/jmg.18.3.209

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

17 in total

1. Ring chromosome D (13) associated with multiple congenital malformations.

Authors: E Niebuhr; J Ottosen
Journal: Ann Genet Date: 1973-09

2. A cytogenetic survey of 11,680 newborn infants.

Authors: P A Jacobs; M Melville; S Ratcliffe; A J Keay; J Syme
Journal: Ann Hum Genet Date: 1974-05 Impact factor: 1.670

3. Monozygotic twins with ring chromosome 22.

Authors: R H Lindenbaum; M Bobrow; L Barber
Journal: J Med Genet Date: 1973-03 Impact factor: 6.318

4. Meiotic studies on a subfertile patient with a ring Y chromosome.

Authors: A C Chandley; P Edmond
Journal: Cytogenetics Date: 1971

5. A ring-4 chromosome in a patient with normal intelligence and short stature.

Authors: R B Surana; J D Bailey; P E Conen
Journal: J Med Genet Date: 1971-12 Impact factor: 6.318

6. [The Dr syndrome. Study of a further case (46, XX, 14r)].

Authors: S Gilgenkrantz; C Cabrol; C Lausecker; M E Hartleyb; B Bohe
Journal: Ann Genet Date: 1971-03

7. Ring chromosome 18 in mother and daughter.

Authors: K R Christensen; U Friedrich; P Jacobsen; K Jensen; J Nielsen; T Tsuboi
Journal: J Ment Defic Res Date: 1970-03

8. [A familial case of 17 r ring-shaped chromosome of group E with transmission from father to son].

Authors: M Burden; E Lupaşcu; L Mărgineanu
Journal: Rev Med Chir Soc Med Nat Iasi Date: 1973 Apr-Jun

9. Studies on human meiotic chromosomes from testicular tissue.

Authors: W S Tulloch; J E Newsam
Journal: Lancet Date: 1966-03-26 Impact factor: 79.321

10. DISTRIBUTIVE PAIRING AND ANEUPLOIDY IN MAN.

Authors: R F GRELL; J I VALENCIA
Journal: Science Date: 1964-07-03 Impact factor: 47.728

11 in total

Review 1. Autosomal ring chromosomes in human genetic disorders.

Authors: Moh-Ying Yip
Journal: Transl Pediatr Date: 2015-04

Review 2. Clinical review of genetic epileptic encephalopathies.

Authors: Grace J Noh; Y Jane Tavyev Asher; John M Graham
Journal: Eur J Med Genet Date: 2012-01-25 Impact factor: 2.708

Review 3. Ring chromosomes: from formation to clinical potential.

Authors: Inna E Pristyazhnyuk; Aleksei G Menzorov
Journal: Protoplasma Date: 2017-09-12 Impact factor: 3.356

4. Investigation of three patients with the "ring syndrome", including familial transmission of ring 5, and estimation of reproductive risks.

Authors: K D MacDermot; E Jack; A Cooke; C Turleau; R H Lindenbaum; J Pearson; C Patel; P M Barnes; J Portch; M D Crawfurd
Journal: Hum Genet Date: 1990-10 Impact factor: 4.132