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KMID : 0381120080300010047
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Genes and Genomics
2008 Volume.30 No. 1 p.47 ~ p.52
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Description of a Patient with Isolated 7q34 Terminal Deletion and Treatment with Growth Hormone
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Su Pen-Hua
Chen Jia-Yuh
Chen Suh-Jen
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Abstract
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We report on a 10-year-old boy with severe psychomotor retardation and craniofacial anomalies. Using high resolution GTG banding, SKY FISH, and CGH analysis, he was found to be carrying a del(7)(q34) inherited from a paternal balanced translocation t(6;7)(qter;q34). Reported deletions of the terminal part of the 7q chromosome have not been associated with
a clearly distinctive and recognizable phenotype. Frequent findings included: pre/postnatal growth and developmental retardation, microcephaly, eye anomalies, flat/broad nasal bridge with bulbous nasal tip, genital abnormalities and brain defects. In addition to the typical abnormalities, this case further provides evidence for a pituitary dwarfism. The patient was beneficially treated with human growth hormone.
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KEYWORD
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chromosome 7q34, deletion, multiple abnormalities, growth hormone deficiency, SKY FISH, CGH
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