Literature DB >> 1576754

Familial occurrence of ring chromosome 15.

Y Horigome1, I Kondo, K Kuwajima, T Suzuki.   

Abstract

We present a family with the ring 15 chromosome (r(15)) syndrome in a 2-year-old infant and his mother. Both had the common clinical manifestations reported in previous cases with r(15), including severe short stature, microcephaly, triangular face, and mild mental retardation. The family also had a normal son. Although males with r(15) syndrome usually seem to be infertile, female r(15) patients are likely to be fertile and their reproductivity may be influenced by severe growth retardation.

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Year:  1992        PMID: 1576754     DOI: 10.1111/j.1399-0004.1992.tb03659.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  4 in total

1.  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

2.  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

Review 3.  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 4.  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

  4 in total

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