Ring chromosome 2: Clinical,chromosomal, and biochemical aspects |
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| Authors: | M Jansen F A Beemer C van der Heiden J O Van Hemel J L Van den Brande |
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| Institution: | (1) University Children's Hospital Het Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands;(2) Clinical Genetics Center Utrecht, State University Utrecht, The Netherlands |
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| Abstract: | Summary A new case of ring chromosome 2 is described and compared with the five cases hitherto reported. The clinical picture includes a severe pre- and postnatal growth failure, microcephaly, psychomotor retardation, and some minor dysmorphic features. Cytogenetic studies revealed a ring 2 structure and aneuploidy. Banding analysis failed to demonstrate a substantial loss of chromosomal material. Enzymologic studies revealed a decrease of red cell acid phosphatase activity suggesting the localization of its gene in the 2p25 2pter region. |
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