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
✦ LIBER ✦
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
No coin nor oath required. For personal study only.
✦ 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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