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Literature DB >> 942238

D13 ring chromosome syndrome.

Abstract

A case of ring D13 chromosome, confirmed by trypsin banding, is described. Reviewing 21 cases from published reports, the most common features of this syndrome are microcephaly and associated mental retardation, poor uterine growth, deformed auricles, hypertelorism, epicanthus, broad nasal bridge, and genital defects in males.

Entities: Disease

Mesh：

Substances：
Blood Group Antigens

Year: 1976 PMID： 942238 PMCID： PMC1545995 DOI： 10.1136/adc.51.6.449

Source DB: PubMed Journal: Arch Dis Child ISSN： 0003-9888 Impact factor: 3.791

18 in total

1. Ring chromosome 13 syndrome.

Authors: K Fried; M Rosenblatt; G Mundel; R Krikler
Journal: Clin Genet Date: 1975-03 Impact factor: 4.438

2. ABNORMALITIES WITH RING CHROMOSOME.

Authors: L E REISMAN; A DARNELL; J W MURPHY
Journal: Lancet Date: 1965-08-28 Impact factor: 79.321

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

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

4. A rapid banding technique for human chromosomes.

Authors: M Seabright
Journal: Lancet Date: 1971-10-30 Impact factor: 79.321

5. Syndrome associated with group-D chromosome deletions.

Authors: R Lehrke; T Thelen; R Lehrke
Journal: Lancet Date: 1971-07-10 Impact factor: 79.321

6. Ring D 1 chromosome with remarkable morphological variation in a boy with mental retardation.

Authors: F Salamanca; L Buentello; S Armendares
Journal: Ann Genet Date: 1972-09

7. A ring chromosome (46,XY,13r) occurring in a family with a D-D translocation 13-,14-, t(13q 14q).

Authors: M Mikkelsen; E Niebuhr
Journal: Ann Genet Date: 1969-03

8. D1 ring chromosome in newborn with peculiar face, polydactyly, imperforate anus, arrhinencephaly, and other malformations.

Authors: A R Biles; T Lüers; K Sperling
Journal: J Med Genet Date: 1970-12 Impact factor: 6.318

9. Malformative syndrome with ring chromosome 13.

Authors: J P Fryns; J Deoover; H Van den Berghe
Journal: Humangenetik Date: 1974

10. The behavior of ring chromosome 13.

Authors: J J Hoo; U Obermann; H Cramer
Journal: Humangenetik Date: 1974

4 in total

1. A case of D13 ring chromosome.

Authors: P Cossu; G Diana; M Mameli; S Cardia; A Milia; G Floris; A Cao
Journal: Hum Genet Date: 1979-01-19 Impact factor: 4.132

2. Study of two cases of ring 13 chromosome using high-resolution banding.

Authors: I M Jones; C G Palmer; D D Weaver; M E Hodes
Journal: Am J Hum Genet Date: 1981-03 Impact factor: 11.025

3. 13q-/r(13) mosaicism.

Authors: T Tamura; M Umetsu; H Motoya; N Niikawa
Journal: Eur J Pediatr Date: 1981-03 Impact factor: 3.183

4. 13q- syndrome. Family study.

Authors: A Carmichael; D P Addy; W R Shortland-Webb; A H Cameron; I C Davies
Journal: Arch Dis Child Date: 1977-12 Impact factor: 3.791

4 in total