Literature DB >> 3278612

Two patients with ring chromosome 15 syndrome.

M G Butler1, A B Fogo, D A Fuchs, F S Collins, V G Dev, J A Phillips.   

Abstract

We report on 2 patients (3 1/2 year-old-male and 6-year-old female) with the ring 15 chromosome syndrome and speech delays and review 25 cases from the literature. The main characteristics of this syndrome include growth retardation (100%), variable mental retardation (95%), microcephaly (88%), hypertelorism (46%), and triangular facies (42%). Other frequent findings include delayed bone age (75%), brachydactyly (44%), speech delay (39%), frontal bossing (36%), anomalous ears (30%), café-au-lait spots (30%), cryptorchidism (30%), and cardiac abnormalities (30%). The average age at diagnosis was 8.1 years. The average maternal and paternal age at the time of birth was 28 and 31 years, respectively.

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Mesh:

Year:  1988        PMID: 3278612      PMCID: PMC5083070          DOI: 10.1002/ajmg.1320290119

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


  22 in total

1.  Ring chromosome 15 in child with a minor dysmorphism of phenotype.

Authors:  L Rumenić; M Anaf
Journal:  Hum Genet       Date:  1976-07-27       Impact factor: 4.132

2.  [Observation of the 13-15 chromosome group in a ring (46,XY,15r)].

Authors:  J M Emberger; D Rossi; R Jean; H Bonnet; R Dumas
Journal:  Humangenetik       Date:  1971

3.  46,XX/46,XX,r(15) mosaiciam: report of a case.

Authors:  R A Pfeiffer; R Dhadial; W Lenz
Journal:  J Med Genet       Date:  1977-02       Impact factor: 6.318

4.  Ring chromosome 15; 46,XX,r(15) (p11q26) in a girl.

Authors:  H Fujita; H Matsumoto
Journal:  Jinrui Idengaku Zasshi       Date:  1978-09

5.  Ring chromosome 15:r(15). Identification by R banding.

Authors:  C Stoll; J G Juif; J C Luckel; C Lausecker
Journal:  Humangenetik       Date:  1975

6.  [The r(15) syndrome (ring chromosome 15). Description of a case].

Authors:  E Ferrante; B Boscherini; L Bruni; P Vignetti; G Finocchi
Journal:  Minerva Pediatr       Date:  1977-11-17       Impact factor: 1.312

7.  Dysplastic features, growth retardation, malrotation of the gut, and fatal ventricular septal defect in a 4-month-old girl with ring chromosome 15.

Authors:  J Otto; E Back; H O Fürste; M Abel; N Böhm; W Pringsheim
Journal:  Eur J Pediatr       Date:  1984-08       Impact factor: 3.183

8.  Ring chromosome 15: phenotype, Ag-NOR analysis, secondary aneuploidy, and associated chromosome instability.

Authors:  D H Ledbetter; V M Riccardi; W W Au; D P Wilson; G P Holmquist
Journal:  Cytogenet Cell Genet       Date:  1980

9.  Ring (15) chromosome.

Authors:  E Yunis; M Leibovici; L Quintero
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

10.  Severe growth failure associated with atrophic intestinal mucosa and ring chromosome 15.

Authors:  G Kosztolányi; M Pap
Journal:  Acta Paediatr Scand       Date:  1986-03
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  22 in total

Review 1.  Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions.

Authors:  M P Hitchins; P Stanier; M A Preece; G E Moore
Journal:  J Med Genet       Date:  2001-12       Impact factor: 6.318

Review 2.  The genetics of the Silver-Russell syndrome.

Authors:  Michael A Preece
Journal:  Rev Endocr Metab Disord       Date:  2002-12       Impact factor: 6.514

Review 3.  Telomeres: a diagnosis at the end of the chromosomes.

Authors:  B B A De Vries; R Winter; A Schinzel; C van Ravenswaaij-Arts
Journal:  J Med Genet       Date:  2003-06       Impact factor: 6.318

Review 4.  Autosomal ring chromosomes in human genetic disorders.

Authors:  Moh-Ying Yip
Journal:  Transl Pediatr       Date:  2015-04

5.  Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome.

Authors:  H Yoshihashi; K Maeyama; R Kosaki; T Ogata; M Tsukahara; Y Goto; J Hata; N Matsuo; R J Smith; K Kosaki
Journal:  Am J Hum Genet       Date:  2000-06-12       Impact factor: 11.025

6.  Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization.

Authors:  M Klaassens; M van Dooren; H J Eussen; H Douben; A T den Dekker; C Lee; P K Donahoe; R J Galjaard; N Goemaere; R R de Krijger; C Wouters; J Wauters; B A Oostra; D Tibboel; A de Klein
Journal:  Am J Hum Genet       Date:  2005-03-04       Impact factor: 11.025

7.  Good growth response to growth hormone treatment in the ring chromosome 15 syndrome.

Authors:  M Nuutinen; K Kouvalainen; M Knip
Journal:  J Med Genet       Date:  1995-06       Impact factor: 6.318

8.  An infant with deletion of the distal long arm of chromosome 15 (q26.1----qter) and loss of insulin-like growth factor 1 receptor gene.

Authors:  E W Roback; A J Barakat; V G Dev; M Mbikay; M Chrétien; M G Butler
Journal:  Am J Med Genet       Date:  1991-01

9.  Characterization of a cryptic 3.3 Mb deletion in a patient with a "balanced t(15;22) translocation" using high density oligo array CGH and gene expression arrays.

Authors:  Marilyn M Li; Manjunath A Nimmakayalu; Danielle Mercer; Hans C Andersson; Beverly S Emanuel
Journal:  Am J Med Genet A       Date:  2008-02-01       Impact factor: 2.802

10.  Methylation-specific multiplex ligation-dependent probe amplification analysis of subjects with chromosome 15 abnormalities.

Authors:  Douglas C Bittel; Nataliya Kibiryeva; Merlin G Butler
Journal:  Genet Test       Date:  2007
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