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Am J Med Genet ; 85(2): 117-22, 1999 Jul 16.
Article in English | MEDLINE | ID: mdl-10406663

ABSTRACT

Côté et al. [1981: Ann Genet 24:231-235] suggested that ring chromosomes without a preceding deletion share a common pattern of phenotypic anomalies, independent of what chromosome is involved. The phenotype of such a "general ring syndrome" consists of growth failure without malformations, few or no minor anomalies, and mild-to-moderate mental retardation. We report on a patient with a ring 2 chromosome with features suggestive of Silver-Russell syndrome at birth and striking postnatal growth retardation with minor intellectual involvement supporting Côté's suggestion. This would be the ninth case of ring 2 chromosome published; the patient is the longest reported survivor, with a 10-year follow-up.


Subject(s)
Chromosomes, Human, Pair 2 , Developmental Disabilities/genetics , Ring Chromosomes , Abnormalities, Multiple/genetics , Body Height/genetics , Body Weight/genetics , Child , Follow-Up Studies , Gene Deletion , Humans , Infant, Newborn , Male , Phenotype
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