Literature DB >> 8911601

Sub-band deletion of 7q36.3 in a patient with ring chromosome 7: association with holoprosencephaly.

J R Sawyer1, J L Lukacs, S J Hassed, G L Arnold, H F Mitchell, M Muenke.   

Abstract

We report on a patient with ring chromosome 7 analyzed by both high-resolution mid-prophase G-banding and fluorescence in situ hybridization (FISH) resolving a subband deletion of 7q36.3 associated with the clinical manifestation of holoprosencephaly (HPE).

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Mesh：

Year:  1996        PMID： 8911601     DOI： 10.1002/(SICI)1096-8628(19961016)65:2<113::AID-AJMG6>3.0.CO;2-T

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  4 in total

1.  Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts.

Authors:  D Haas; J Morgenthaler; F Lacbawan; B Long; H Runz; S F Garbade; J Zschocke; R I Kelley; J G Okun; G F Hoffmann; M Muenke
Journal:  J Med Genet       Date:  2007-01-19       Impact factor: 6.318

2.  Molecular cytogenetic analysis and clinical manifestations of a case with de novo mosaic ring chromosome 7.

Authors:  Li-Ping Tsai; Kuei-Fang Lee; Jye-Siung Fang; Ingrid Y Liu
Journal:  Mol Cytogenet       Date:  2011-02-08       Impact factor: 2.009

3.  Prenatal diagnosis of 4p and 4q subtelomeric microdeletion in de novo ring chromosome 4.

Authors:  Halit Akbas; Naci Cine; Mahmut Erdemoglu; Ahmet Engin Atay; Selda Simsek; Aysegul Turkyilmaz; Mehmet Fidanboy
Journal:  Case Rep Obstet Gynecol       Date:  2013-12-19

4.  First trimester diagnosis of holoprosencephaly secondary to a ring chromosome 7.

Authors:  Lindsay B Henderson; Virginia L Corson; Daniel O Saul; Cynthia Anderson; Sarah Millard; Denise A S Batista; Karin J Blakemore; Cheryl Descipio
Journal:  Case Rep Genet       Date:  2013-02-21
  4 in total

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