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Klinefelter's syndrome with a presumptive deleted X chromosome.

1966; BMJ; Volume: 3; Issue: 2 Linguagem: Inglês

10.1136/jmg.3.2.139

1468-6244

Jørgen Nielsen,

Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Klinefelter's syndrome with a deleted X chromosome has previously only been reported in two cases with chromosome mosaicism, one with 47/48 XXY/XXxY described by Crawfurd (i96i), and one with 47/46/46 XxY/Xx/XY, described by De La Chapelle (I963); both are doubtful cases of X deletion as the first had only one sex chromatin body and the last was chromatin negative.Crawfurd (I96I) described a 30-year-old patient with thalassaemia, Klinefelter's syndrome, and chromosome mosaicism.The sex chromosomes were XXY (47) in 54 cells, and XXxY (48) in i3 cells.Buccal smear was chromatin positive, but no cells had more than one sex chromatin body.In a survey of sex chromosome abnormalities among 1,758 patients with severe mental retardation De La Chapelle (i963) found an i8-year-old boy with an IQ of 30, who was first reported as having 49 chromosomes and a sex chromosome constitution of XXXxY with deletion of the major part of the long arm of one X chromosome in I05 out of II0 cells, but later interpreted as a case of 49 XXXXY and autosomal translocation 6-I2/4-5 (A.De La Chapelle, i965, personal communication).Valencia, Sonnenschein, Bur, and de Lozzio (I964) described a case of Klinefelter's syndrome with chromo- some mosaicism of the type XxY (47) in 21 cells, Xx (46) in IS cells, and XY (46) in 21 cells.The extra small chromosome described as deleted X long arm is, how- ever, judged from the karyotype published, more similar to the chromosomes in the I3-15 group, and it is either total deletion of the long arm of one X or trisomy 13-15.The authors mention, however, that the patient fits better clinically in the Klinefelter group than in the autosomal I3-I5 trisomy group.No chromatin bodies were found in buccal smears on this patient. Materials and MethodsIn a nuclear sexing study of patients in a mental hospital, among I,570 males i6 cases of chromatin-