Literature DB >> 17526969

Ring chromosome 9 in a dysmorphic child.

Jayesh Sheth1, Rajesh Joshi, Frenny Sheth.   

Abstract

Ring chromosome is a rare genetic disorder observed in the children with variable clinical presentation and phenotype. Among several ring formation, individuals with r(9) generally have less distinct clinical features. An eight-mth-old boy, presenting with broad and dark eyebrows with protruding tongue, microcephaly, short stature and failure to thrive was found to have ring chromosome 9. 46,X,inv(Y),r(9)(p24q34). This shows that karyotype study is an essential integral investigation in the management of dysmorphic child.

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Year:  2007        PMID: 17526969     DOI: 10.1007/s12098-007-0090-2

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN: 0019-5456            Impact factor:   5.319


  8 in total

1.  Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences.

Authors:  J R Vermeesch; E Baten; J-P Fryns; K Devriendt
Journal:  Clin Genet       Date:  2002-11       Impact factor: 4.438

2.  Ring chromosome 9 [r(9)(p24q34)]: a report of two cases.

Authors:  Smita M Purandare; Jiyun Lee; Susan Hassed; Marilyn I Steele; Piers R Blackett; John J Mulvihill; Shibo Li
Journal:  Am J Med Genet A       Date:  2005-10-15       Impact factor: 2.802

3.  Ring chromosome 14 with epilepsy and development delay.

Authors:  Frenny J Sheth; Nilang Soni
Journal:  Indian Pediatr       Date:  2006-08       Impact factor: 1.411

4.  Ring chromosome 9 with a 9p22.3-p24.3 duplication.

Authors:  L Seghezzi; P Maraschio; M Bozzola; E Maserati; R Tupler; A Marchi; L Tiepolo
Journal:  Eur J Pediatr       Date:  1999-10       Impact factor: 3.183

5.  The effect of structural aberrations of the chromosomes on reproductive fitness in man. II. Results.

Authors:  P A Jacobs; A Frackiewicz; P Law; C J Hilditch; N E Morton
Journal:  Clin Genet       Date:  1975-09       Impact factor: 4.438

6.  Ring chromosome 9: an atypical case.

Authors:  G Lanzi; E Fazzi; P Veggiotti; E Pagliano; M Gariglio; C Bonaglia; S Landolfo
Journal:  Brain Dev       Date:  1996 May-Jun       Impact factor: 1.961

7.  Does "ring syndrome" exist? An analysis of 207 case reports on patients with a ring autosome.

Authors:  G Kosztolányi
Journal:  Hum Genet       Date:  1987-02       Impact factor: 4.132

8.  Moderate mental retardation and nonspecific dysmorphic syndrome associated with ring chromosome 9.

Authors:  J P Fryns; A Lambrechts; H Jansseune; H Van den Berghe
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

  8 in total

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