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.
A small autosomal ring chromosome in a female infant with congenital malformations
β Scribed by MARY LUCAS; N. H. KEMP; J. R. ELLIS; RUTH MARSHALL
- Book ID
- 115246892
- Publisher
- John Wiley and Sons
- Year
- 1963
- Tongue
- English
- Weight
- 824 KB
- Volume
- 27
- Category
- Article
- ISSN
- 0003-4800
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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
## Abstract A ring X chromosome is found in about 6% of patients with Turner syndrome (TS), often with mosaicism for a 45,X cell line. Patients with this karyotype are reported to have a higher incidence of a more severe phenotype including mental retardation. In fact, some studies have shown a cor