A patient with congenital anomalies and a deletion of the long arm of the long arm of chromosome 4 [46,XY,del(4)(q31)].
AUTOR(ES)
Kempen, C
RESUMO
This paper describes the clinical symptoms and cytogenetic findings in a patient previously described in a doctoral thesis (van Kempen, 1969). The patient is a boy with multiple congenital anomalies and a deletion of the long arm of chromosome 4. A recent Giemsa banding study showed absence of the terminal G-band, as was found in the patient described by Golbus et al (1973). The symptoms and other data on the three patients known to have a deletion of the long arm of chromosome 4 are presented to facillitate comparison of these cases. However, the number of cases so far on record is too small to warrant conclusions on the basis of this comparison.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1013266Documentos Relacionados
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