Hypogammaglobulinemia and Silver-Russell phenotype associated with partial trisomy 7q and partial monosomy 21q.

摘要

More than 40 cases have been described with partial trisomy of the long arm of chromosome 7 (7q). These include partial trisomy 7q and a deletion of another chromosome region as a product of parental balanced chromosome anomalies. Different clinical manifestations, including dysmorphic features (hypertelorism, strabismus, wide open fontanels, epicanthus, frontal bossing, cleft palate, high-arched palate, and short neck), low birth weight, hypotonia, skeletal and kidney abnormalities, and cardiac defect were reported [Rodriguez et al., 2002]. Partial monosomy 21 is an uncommon chromosomal abnormality that has a heterogeneous phenotype according to the deleted segment of chromosome 21 [Chen et al., 2003,2004,2006]. Hypogammaglobulinemia has been reported in a patient with ring chromosome 21 [Ohga et al., 1997].