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Ring chromosome 10 Associated with multiple congenital malformations

✍ Scribed by G. Simoni; F. Rossella; L. Dalprà; G. Visconti; C. Piria-Schwarz


Publisher
Springer
Year
1979
Tongue
English
Weight
435 KB
Volume
51
Category
Article
ISSN
0340-6717

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✦ Synopsis


A 46,XY,r(10) karyotype was found in lymphocytes and skin fibroblasts cultured from a 8-month-old male showing multiple malformations and severe mental retardation. A comparison of the clinical features observed in cases in which a 10 ring was identified by means of banding techniques has been also attempted.


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✍ S. Nakajima; M. Yanagisawa; S. Kamoshita; Y. Nakagome 📂 Article 📅 1976 🏛 Springer 🌐 English ⚖ 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