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A ring chromosome 9 in an infant with malformations

✍ Scribed by T. Inouye; H. Matsuda; K. Shimura; M. Hamazaki; I. Kikuta; K. Iinuma; Y. Nakagome


Publisher
Springer
Year
1979
Tongue
English
Weight
739 KB
Volume
50
Category
Article
ISSN
0340-6717

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✦ Synopsis


A low-birth-weight infant with malformed upper extremities and congenital heart disease was observed. Cytogenetic analysis revealed a 46,XY,r(9)(p24q34) complement.


πŸ“œ SIMILAR VOLUMES


Mental retardation and congenital malfor
✍ S. Nakajima; M. Yanagisawa; S. Kamoshita; Y. Nakagome πŸ“‚ Article πŸ“… 1976 πŸ› Springer 🌐 English βš– 341 KB

A 46,XY,r(9) (p24q34) complement was observed in a 35-month-old boy with multiple congenital anomalies. The main clinical features included intrauterine growth retardation, dwarfism, microcephaly, peculiar face, undescended testes, seizures and severe psychomotor retardation. It appears that 4 repor