Literature DB >> 2195979

Ring chromosome 16: a new case.

M G Vianello1, F Cottafava, D Bartoli, G Franzone, R Casazzava, R Gastaldi.   

Abstract

A 46,XX,r(16) "de novo" karyotype is reported in a 4 7/12-year-old girl. In spite of the mild cranio-facial dysmorphism without visceral malformations in r(16) patients, the proband's phenotype is similar to the other four previous case reports. This could support the hypothesis of a specific "r(16) syndrome".

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Mesh：

Year:  1990        PMID： 2195979

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


  2 in total

1.  Presence of telomeric and subtelomeric sequences at the fusion points of ring chromosomes indicates that the ring syndrome is caused by ring instability.

Authors:  A Pezzolo; G Gimelli; A Cohen; A Lavaggetto; C Romano; G Fogu; O Zuffardi
Journal:  Hum Genet       Date:  1993-08       Impact factor: 4.132

2.  Prenatal Diagnosis of a Fetus with de novo Supernumerary Ring Chromosome 16 Characterized by Array Comparative Genomic Hybridization.

Authors:  Pietro Cignini; Angela Dinatale; Laura D'Emidio; Annamaria Giacobbe; Elisa Maria Pappalardo; Santina Ermito; Domenico Bizzoco; Gianluca Di Giacomo; Ivan Gabrielli; Alvaro Mesoraca; Maurizio Giorlandino; Claudio Giorlandino
Journal:  AJP Rep       Date:  2011-03-18
  2 in total

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