首页|Description of a patient with isolated 7q34 terminal deletion and treatment with growth hormone: A case report
Description of a patient with isolated 7q34 terminal deletion and treatment with growth hormone: A case report
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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.
PharmacologyMC - Methods and TechniquesMC - Medical Genetics: Allied Medical Sciences
Su, Pen-Hua、Chen, Jia-Yuh、Chen, Suh-Jen
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Chung Shan Med Univ Hosp, Div Neonatol, Dept Pediat, Taichung, Taiwan.
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