Literature DB >> 314262

[Intercalary deletions of 9q].

C Turleau, J de Grouchy, J P Chabrolle.   

Abstract

Two interstitial deletions of different segments of 9q are reported. The first deletion (9/11q22) was seen in an 8-year-old boy with severe psychomotor retardation and descrete facial dysmorphism. The second deletion (9q32q34) was seen in a 5-month-old boy with a very peculiar cranio-facial dysmorphism including brachycephaly, frontal bossing, a deep nasal bridge, a short nose, and absence of triradii b, c and d.

Entities:  

Mesh:

Year:  1978        PMID: 314262

Source DB:  PubMed          Journal:  Ann Genet        ISSN: 0003-3995


  8 in total

Review 1.  A report of a child with a deletion (9)(q34.3): a recognisable phenotype?

Authors:  H Ayyash; R Mueller; E Maltby; P Horsfield; N Telford; R Tyler
Journal:  J Med Genet       Date:  1997-07       Impact factor: 6.318

2.  Schizophrenia and mental retardation in an adult male with a de novo interstitial deletion 9(q32q34.1).

Authors:  J P Park; J B Moeschler; S Z Berg; D H Wurster-Hill
Journal:  J Med Genet       Date:  1991-04       Impact factor: 6.318

3.  9q22 Deletion--first familial case.

Authors:  Linda Siggberg; Maarit Peippo; Marjatta Sipponen; Taina Miikkulainen; Keiko Shimojima; Toshiyuki Yamamoto; Jaakko Ignatius; Sakari Knuutila
Journal:  Orphanet J Rare Dis       Date:  2011-06-22       Impact factor: 4.123

4.  Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionarily conserved non-transcribed region.

Authors:  A Tagariello; R Heller; A Greven; V M Kalscheuer; T Molter; A Rauch; W Kress; A Winterpacht
Journal:  J Med Genet       Date:  2005-10-28       Impact factor: 6.318

5.  De novo interstitial deletion in the long arm of chromosome 9: a new chromosome syndrome.

Authors:  K L Ying; C J Curry; K B Rajani; S H Kassel; R S Sparkes
Journal:  J Med Genet       Date:  1982-02       Impact factor: 6.318

6.  Two cases of X/autosome translocation in females with incontinentia pigmenti.

Authors:  S V Hodgson; B Neville; R W Jones; C Fear; M Bobrow
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

Review 7.  Genetic basis of single-suture synostoses: genes, chromosomes and clinical implications.

Authors:  Wanda Lattanzi; Nenad Bukvic; Marta Barba; Gianpiero Tamburrini; Camilla Bernardini; Fabrizio Michetti; Concezio Di Rocco
Journal:  Childs Nerv Syst       Date:  2012-08-08       Impact factor: 1.475

8.  Regional assignment of the loci for adenylate kinase to 9q32 and for alpha 1-acid glycoprotein to 9q31-q32. A locus for Goltz syndrome in region 9q32-qter?

Authors:  O Zuffardi; A Caiulo; P Maraschio; R Tupler; E Bianchi; P Amisano; G Beluffi; R Moratti; G Liguri
Journal:  Hum Genet       Date:  1989-04       Impact factor: 4.132

  8 in total

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