Literature DB >> 9391882

Different proximal and distal rearrangements of chromosome 7q associated with holoprosencephaly.

B Benzacken1, J P Siffroi, C Le Bourhis, K Krabchi, N Joyé, F Maschino, F Viguié, J Soulié, M Gonzales, G Migné, M Bucourt, F Encha-Razavi, L Carbillon, J L Taillemite.   

Abstract

Four new cases of holoprosencephaly are described in fetuses exhibiting abnormal karyotypes with different distal and proximal rearrangements of the long arm of chromosome 7. Three of them showed terminal deletions of chromosome 7q, confirming the importance of the 7q36 region in holoprosencephaly. The karyotype of the fourth fetus showed an apparently balanced de novo translocation, t(7;13) (q21.2;q33), without any visible loss of the distal part of chromosome 7q. The involvement of new genes, different from the human Sonic Hedgehog gene (hShh) responsible for holoprosencephaly, or a positional effect are discussed.

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Year:  1997        PMID： 9391882      PMCID： PMC1051116          DOI： 10.1136/jmg.34.11.899

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


  22 in total

Review 1.  Perspectives on holoprosencephaly: Part III. Spectra, distinctions, continuities, and discontinuities.

Authors:  M M Cohen
Journal:  Am J Med Genet       Date:  1989-10

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Journal:  Cell       Date:  1996-05-31       Impact factor: 41.582

3.  Case of cyclopia with an unbalanced karyotype attributable to a balanced 3/7 translocation.

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Journal:  Clin Genet       Date:  1989-10       Impact factor: 4.438

4.  Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.

Authors:  E Belloni; M Muenke; E Roessler; G Traverso; J Siegel-Bartelt; A Frumkin; H F Mitchell; H Donis-Keller; C Helms; A V Hing; H H Heng; B Koop; D Martindale; J M Rommens; L C Tsui; S W Scherer
Journal:  Nat Genet       Date:  1996-11       Impact factor: 38.330

5.  Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.

Authors:  E Roessler; E Belloni; K Gaudenz; P Jay; P Berta; S W Scherer; L C Tsui; M Muenke
Journal:  Nat Genet       Date:  1996-11       Impact factor: 38.330

6.  Good genes in bad neighbourhoods.

Authors:  M A Bedell; N A Jenkins; N G Copeland
Journal:  Nat Genet       Date:  1996-03       Impact factor: 38.330

7.  Lumbosacral agenesis: clinical characteristics, imaging, and embryogenesis.

Authors:  C L Harlow; M D Partington; G A Thieme
Journal:  Pediatr Neurosurg       Date:  1995       Impact factor: 1.162

8.  Isolation of cDNA and genomic clones of a human Ras-related GTP-binding protein gene and its chromosomal localization to the long arm of chromosome 7, 7q36.

Authors:  N Mizuki; M Kimura; S Ohno; S Miyata; M Sato; H Ando; M Ishihara; K Goto; S Watanabe; M Yamazaki; A Ono; S Taguchi; K Okumura; M Nogami; T Taguchi; A Ando; H Inoko
Journal:  Genomics       Date:  1996-05-15       Impact factor: 5.736

9.  Cyclopia and cebocephaly in two newborn infants with unbalanced segregation of a familial translocation rcp (1;7)(q32;q34).

Authors:  A Schinzel
Journal:  Am J Med Genet       Date:  1984-05

10.  Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function.

Authors:  C Chiang; Y Litingtung; E Lee; K E Young; J L Corden; H Westphal; P A Beachy
Journal:  Nature       Date:  1996-10-03       Impact factor: 49.962
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  6 in total

1.  Another holoprosencephaly locus at 7q21.2?

Authors:  J P Fryns
Journal:  J Med Genet       Date:  1998-07       Impact factor: 6.318

Review 2.  Lineage-specific roles of hedgehog-GLI signaling during mammalian kidney development.

Authors:  Robert D'Cruz; Katryna Stronks; Christopher J Rowan; Norman D Rosenblum
Journal:  Pediatr Nephrol       Date:  2019-03-28       Impact factor: 3.714

3.  Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated with 7q34-q36.3 heterozygous terminal deletion.

Authors:  Carolyn C Jackson; Alain Lefèvre-Utile; Anne Guimier; Valérie Malan; Julie Bruneau; Antoine Gessain; Olivier Cassar; Jeanne Amiel; Aurélie Cobat; Vimel Rattina; Laurent Abel; Jean-Laurent Casanova; Stéphane Blanche
Journal:  Am J Med Genet A       Date:  2017-05-09       Impact factor: 2.802

Review 4.  Control of mammalian kidney development by the Hedgehog signaling pathway.

Authors:  Jason E Cain; Norman D Rosenblum
Journal:  Pediatr Nephrol       Date:  2010-12-15       Impact factor: 3.714

5.  Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.

Authors:  Chayim Can Schell-Apacik; Kristina Wagner; Moritz Bihler; Birgit Ertl-Wagner; Uwe Heinrich; Eva Klopocki; Vera M Kalscheuer; Maximilian Muenke; Hubertus von Voss
Journal:  Am J Med Genet A       Date:  2008-10-01       Impact factor: 2.802

6.  Spectrum of MNX1 Pathogenic Variants and Associated Clinical Features in Korean Patients with Currarino Syndrome.

Authors:  Seungjun Lee; Eun Jin Kim; Sung Im Cho; Hyunwoong Park; Soo Hyun Seo; Moon Woo Seong; Sung Sup Park; Sung Eun Jung; Seong Cheol Lee; Kwi Won Park; Hyun Young Kim
Journal:  Ann Lab Med       Date:  2018-05       Impact factor: 3.464
  6 in total

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