Literature DB >> 1140815

Ring chromosome 13 in a polymalformed anencephalic.

W Schmid, J P Mühlethaler, J Briner, H Knechtli.   

Abstract

In the 33rd week of pregnancy an amniocentesis was performed because of low estriol. X-ray indicated the presence of anencephaly and a premature delivery was induced. Necropsy, in addition to anencephaly, showed a wide variety of malformations. The fetal karyotype determined from cultured amniotic fluid cells revealed a ring chromosome 13.

Entities:  

Mesh：

Year:  1975        PMID： 1140815     DOI： 10.1007/bf00283507

Source DB:  PubMed          Journal:  Humangenetik        ISSN： 0018-7348


  3 in total

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

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

2.  Craniorachischisis in a partially trisomic 11 fetus in a family with reproductive failure and a reciprocal translocation, t(6p plus;11q minus).

Authors:  Y M Wright; W E Clark; W R Breg
Journal:  J Med Genet       Date:  1974-03       Impact factor: 6.318

3.  Four patients with trisomy 8 identified by the fluorescence and Giemsa banding techniques.

Authors:  T Caspersson; J Lindsten; L Zech; K E Buckton; W H Price
Journal:  J Med Genet       Date:  1972-03       Impact factor: 6.318
  3 in total
  8 in total

1.  Parental origin of a ring 13 chromosome in a female with multiple anomalies.

Authors:  R E Magenis; H E Wyandt; K M Overton; J Macfarlane
Journal:  Hum Genet       Date:  1976-07-27       Impact factor: 4.132

2.  Partial deletion of the long arm of chromosome no. 13.

Authors:  A Cuschieri; P V Agius; J M Scheres
Journal:  Hum Genet       Date:  1977-05-10       Impact factor: 4.132

3.  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

4.  Retinoblastoma, gross internal malformations, and deletion 13q14 leads to q31.

Authors:  E Yunis; R Zuñiga; E Ramírez
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

5.  Congenital malformations associated with anencephaly and iniencephaly.

Authors:  T J David; A Nixon
Journal:  J Med Genet       Date:  1976-08       Impact factor: 6.318

Review 6.  Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q.

Authors:  C A Brandt; J M Hertz; M B Petersen; F Vogel; H Noer; M Mikkelsen
Journal:  J Med Genet       Date:  1992-10       Impact factor: 6.318

7.  Clinical features in a case with ring chromosome 13.

Authors:  B Parcheta; L Wisniewski; E Piontek; J Szymanska; W Skawinski; K Wermenski
Journal:  Eur J Pediatr       Date:  1985-11       Impact factor: 3.183

Review 8.  The past, present, and future for constitutional ring chromosomes: A report of the international consortium for human ring chromosomes.

Authors:  Peining Li; Barbara Dupont; Qiping Hu; Marco Crimi; Yiping Shen; Igor Lebedev; Thomas Liehr
Journal:  HGG Adv       Date:  2022-09-10
  8 in total

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