Literature DB >> 7545237

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

M Nuutinen1, K Kouvalainen, M Knip.   

Abstract

Ring chromosome 15 syndrome is a rare condition in which severe growth retardation is a major finding. We report a 4 year old boy with the karyotype 46,XY, r(15)(p11.2q26.2) whom we have treated with recombinant human growth hormone (GH) for two years. During the first year of treatment, the insulin-like growth factor I increased from subnormal 4.2 nmol/l to normal 13.8 nmol/l and the insulin-like growth factor binding protein 3 levels increased from 2.6 to 3.8 mg/l, whereas high binding protein 1 concentrations normalised from 52.0 to 16.7 micrograms/l. During the two years of treatment his relative height improved from -6.2 SD to -4.4 SD and the predicted adult height from 159.6 cm to 163.5 cm. Owing to the good growth response, we have decided to continue GH treatment.

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Year:  1995        PMID: 7545237      PMCID: PMC1050492          DOI: 10.1136/jmg.32.6.486

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


  8 in total

1.  Familial occurrence of ring chromosome 15.

Authors:  Y Horigome; I Kondo; K Kuwajima; T Suzuki
Journal:  Clin Genet       Date:  1992-04       Impact factor: 4.438

2.  A case of ring chromosome 15 accompanied by almost normal intelligence.

Authors:  M Kitatani; H Takahashi; M Ozaki; E Okino; T Maruoka
Journal:  Hum Genet       Date:  1990-06       Impact factor: 4.132

3.  A monoclonal antibody-based immunoradiometric assay for low molecular weight insulin-like growth factor binding protein/placental protein 12.

Authors:  F Pekonen; T Kärkkäinen; P Tanner; T Weber; E M Rutanen
Journal:  J Immunoassay       Date:  1989

4.  Ring chromosome 15 syndrome. Further delineation of the adult phenotype.

Authors:  J P Fryns; A Kleczkowska; M Buttiens; P Jonckheere; K Brouckmans-Buttiens; H van den Berghe
Journal:  Ann Genet       Date:  1986

5.  Decreased cell viability of fibroblasts from two patients with a ring chromosome: an in vitro reflection of growth failure?

Authors:  G Kosztolányi
Journal:  Am J Med Genet       Date:  1987-09

6.  Ring chromosome 15 involving deletion of the insulin-like growth factor 1 receptor gene in a patient with features of Silver-Russell syndrome.

Authors:  T Tamura; T Tohma; T Ohta; H Soejima; N Harada; K Abe; N Niikawa
Journal:  Clin Dysmorphol       Date:  1993-04       Impact factor: 0.816

Review 7.  Two patients with ring chromosome 15 syndrome.

Authors:  M G Butler; A B Fogo; D A Fuchs; F S Collins; V G Dev; J A Phillips
Journal:  Am J Med Genet       Date:  1988-01

8.  Ring chromosome 15 in a patient with features of Fryns' syndrome.

Authors:  G de Jong; R A Rossouw; A E Retief
Journal:  J Med Genet       Date:  1989-07       Impact factor: 6.318

  8 in total
  7 in total

Review 1.  Autosomal ring chromosomes in human genetic disorders.

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

2.  Distinct 15q genotypes in Russell-Silver and ring 15 syndromes.

Authors:  P K Rogan; J R Seip; D J Driscoll; P R Papenhausen; V P Johnson; S Raskin; A L Woodward; M G Butler
Journal:  Am J Med Genet       Date:  1996-03-01

3.  The normality of sperm in an infertile man with ring chromosome 15: a case report.

Authors:  Kazuyo Nishikawa; Fumiaki Itoi; Miki Nagahara; Mami Jose; Ayumi Matsunaga; Jun Ueda; Takashi Iwamoto
Journal:  J Assist Reprod Genet       Date:  2017-10-23       Impact factor: 3.412

4.  Ring chromosome 15: characterization by array CGH.

Authors:  Ian A Glass; Katherine A Rauen; Emily Chen; Jillian Parkes; Donna G Alberston; Daniel Pinkel; Philip D Cotter
Journal:  Hum Genet       Date:  2005-11-03       Impact factor: 4.132

5.  Molecular characterization and evaluation of complex rearrangements in a case of ring chromosome 15.

Authors:  Stuti Tewari; Naznin Lubna; Raju Shah; Ahmed B H Al-Rikabi; Krati Shah; Jayesh Sheth; Frenny Sheth
Journal:  Mol Cytogenet       Date:  2017-10-25       Impact factor: 2.009

Review 6.  Ring chromosome 15 - cytogenetics and mapping arrays: a case report and review of the literature.

Authors:  César Paz-Y-Miño; Jaime Guevara-Aguirre; Ariane Paz-Y-Miño; Francesca Velarde; Isaac Armendáriz-Castillo; Verónica Yumiceba; Jesús María Hernández; Juan Luis García; Paola E Leone
Journal:  J Med Case Rep       Date:  2018-11-16

Review 7.  The phenotype and rhGH treatment response of ring Chromosome 15 Syndrome: Case report and literature review.

Authors:  Meiping Chen; Xiaoan Ke; Hanting Liang; Fengying Gong; Hongbo Yang; Linjie Wang; Lian Duan; Hui Pan; Dongyan Cao; Huijuan Zhu
Journal:  Mol Genet Genomic Med       Date:  2021-11-08       Impact factor: 2.183

  7 in total

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