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A Patient with Ring 9 Chromosome 46, XY, r(9)(p24.1q34.3)
Author(s) -
Kasa Noriyoshi,
Kasai Ryozo
Publication year - 1988
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1988.tb02558.x
Subject(s) - trigonocephaly , medicine , locus (genetics) , karyotype , monosomy , genetics , chromosome , pediatrics , anatomy , craniosynostosis , gene , biology
We report the case of a male infant with a 46, XY, r(9)(p24.1q34.3) karyotype. He had developmental retardation and many dysmorphic features, such as trigonocephaly, ante‐verted nostrils, micrognathia, abnormal auricles, short neck, cardiopathy and increased frequency of digital whorls, in common with those of monosomy 9p syndrome. The normal activity of erythrocyte AK1 in this patient suggests that the locus of AK1 can be confined to 9q34.1→39q34.3 instead of the formerly assigned locus of 9q34.