Literature DB >> 3565953

[Ring chromosome 18 46,XY,r(18)].

E Benito, A Serrano, F Moreno, J Espinosa, M J Dávila, J J Cardesa, E Galán, J Rubio, L Zarallo.   

Abstract

Authors report a ring chromosome 18 (18 r) in a four year old boy, with low birth weight, retarded growth and development, microcephaly and plagiocephaly, horizontal nystagmus, ambiguous genitalia, clinodactyly of the fifth finger, distal axial triradius, whorls pattern in 8 fingers in dermatoglyphic. Serum IgA is lower than 3 mg/dl. Parents karyotype is normal.

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Year:  1987        PMID: 3565953

Source DB:  PubMed          Journal:  An Esp Pediatr        ISSN: 0302-4342


  1 in total

1.  Transmission of a ring chromosome 18 from a mother with 46,XX/47,XX, + r(18) mosaicism to her daughter, resulting in a 46,XX,r(18) karyotype.

Authors:  J Jenderny; A Caliebe; C Beyer; W Grote
Journal:  J Med Genet       Date:  1993-11       Impact factor: 6.318

  1 in total

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