Ring chromosome 2: clinical, chromosomal, and biochemical aspects

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 an...

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Bibliographic Details
Published inHuman genetics Vol. 60; no. 1; p. 91
Main Authors Jansen, M, Beemer, F A, van der Heiden, C, Van Hemel, J O, Van den Brande, J L
Format Journal Article
LanguageEnglish
Published Germany 01.01.1982
Subjects
Acid Phosphatase - genetics
Aneuploidy
Child, Preschool
Chromosome Mapping
Chromosomes, Human, 1-3
Erythrocytes - enzymology
Female
Growth Disorders - genetics
Humans
Karyotyping
Microcephaly - genetics
Psychomotor Disorders - genetics
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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 inthe 2p25 leads to 2 pter region.
ISSN:0340-6717
DOI:10.1007/BF00281274