Literature DB >> 1150287

Ring 17 chromosome detected by amniocentesis.

A G Weinberg, J L Bair, M J Harrod.   

Abstract

A fetus with a 46,XX,r(17) karyotype identified initially by amniocentesis and confirmed by banding studies is described. No significant phenotypic abnormalities were identified despite isolation of the ring chromosome from multiple fetal tissues. This paucity of abnormal features of gross development is consistent with findings in 3 previously reported patients with ring 17 chromosomes.

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Year:  1975        PMID: 1150287     DOI: 10.1007/bf00278557

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


  9 in total

1.  Simplified method for the acclerated growth of amniotic fluid cell cultures.

Authors:  L L Cederqvist; C Wennerstrom; L B Senterfit; P B Baldridge; D J Rothe
Journal:  Am J Obstet Gynecol       Date:  1973-07-15       Impact factor: 8.661

Review 2.  Prenatal detection of genetic disorders.

Authors:  H L Nadler
Journal:  Adv Hum Genet       Date:  1972

3.  New technique for distinguishing between human chromosomes.

Authors:  A T Sumner; H J Evans; R A Buckland
Journal:  Nat New Biol       Date:  1971-07-07

4.  Results and pitfalls in prenatal cytogenetic diagnosis.

Authors:  L Y Hsu; E C Dubin; T Kerenyi; K Hirschhorn
Journal:  J Med Genet       Date:  1973-06       Impact factor: 6.318

5.  Tetraploidy in cells cultured from amniotic fluid.

Authors:  G Kohn; A Robinson
Journal:  Lancet       Date:  1970-10-10       Impact factor: 79.321

6.  Prenatal diagnosis of genetic disorders. An analysis of experience with 600 cases.

Authors:  A Milunsky; L Atkins
Journal:  JAMA       Date:  1974-10-14       Impact factor: 56.272

7.  Chromosomal mosaicism in diagnostic amniotic fluid cell cultures.

Authors:  D M Cox; V Niewczas-Late; M I Riffell; J L Hamerton
Journal:  Pediatr Res       Date:  1974-06       Impact factor: 3.756

8.  [Study of a 46,XX-46,XX,17r mosaicism].

Authors:  P Petit; L Koulischer
Journal:  Ann Genet       Date:  1971-03

9.  [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 in total
  4 in total

1.  Miller-Dieker syndrome with ring chromosome 17.

Authors:  N Sharief; J Craze; D Summers; L Butler; C B Wood
Journal:  Arch Dis Child       Date:  1991-06       Impact factor: 3.791

2.  An infant with ring 17 chromosome and unusual dermatoglyphs: a new syndrome?

Authors:  N J Carpenter; L G Leichtman; S Stamper; B Say
Journal:  J Med Genet       Date:  1981-06       Impact factor: 6.318

3.  New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.

Authors:  R F Stratton; W B Dobyns; S D Airhart; D H Ledbetter
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

Review 4.  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
  4 in total

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