Literature DB >> 1746890

Ring chromosome 8 associated with microcephaly.

R Mingarelli1, G Valorani, L Zelante, B Dallapiccola.   

Abstract

A two-year-old mental defective girl with microcephaly and minor dysmorphic features had a 46,XX,r(8) karyotype. Low birth weight, short stature, and mental retardation were common features in the four known patients with r(8).

Entities:  

Mesh：

Year:  1991        PMID： 1746890

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


  2 in total

1.  Identification of a ring chromosome as a ring 8 using fluorescent in situ hybridization (FISH) in a child with multiple congenital anomalies.

Authors:  M G Butler; E W Roback; G A Allen; V G Dev
Journal:  Am J Med Genet       Date:  1995-07-03

2.  46,XY,r(8)/45,XY,-8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study.

Authors:  Anna A Kashevarova; Tatyana V Nikitina; Larisa I Mikhailik; Elena O Belyaeva; Stanislav A Vasilyev; Mariya E Lopatkina; Dmitry A Fedotov; Elizaveta A Fonova; Aleksei A Zarubin; Aleksei A Sivtsev; Nikolay A Skryabin; Lyudmila P Nazarenko; Igor N Lebedev
Journal:  Genes (Basel)       Date:  2020-12-09       Impact factor: 4.096
  2 in total

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