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The XXXXY sex chromosome abnormality.
Can Med Assoc J. 1962 Oct 27; 87:891-901.CM

Abstract

The most common sex chromosome complex in sex chromatin-positive males with Klinefelter's syndrome is XXY. When the complex is XXYY or XXXY, the clinical findings do not seem to differ materially from those seen in XXY subjects, although more patients with these intersexual chromosome complements need to be studied to establish possible phenotypical expressions of the chromosomal variants.Two male children with an XXXXY sex chromosome abnormality are described. The data obtained from the study of these cases and five others described in the literature suggest that the XXXXY patient is likely to have congenital defects not usually seen in the common form of the Klinefelter syndrome. These include a triad of (1) skeletal anomalies (including radioulnar synostosis), (2) hypogenitalism (hypoplasia of penis and scrotum, incomplete descent of testes and defective prepubertal development of seminiferous tubules), and (3) greater risk of severe mental deficiency.That the conclusions are based on data from a small number of patients is emphasized, together with the need for a cytogenetic survey of a large control or unselected population.

Authors

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Pub Type(s)

Journal Article

Language

eng

PubMed ID

13969480

Citation

BARR, M L., et al. "The XXXXY Sex Chromosome Abnormality." Canadian Medical Association Journal, vol. 87, 1962, pp. 891-901.
BARR ML, CARR DH, POZSONYI J, et al. The XXXXY sex chromosome abnormality. Can Med Assoc J. 1962;87:891-901.
BARR, M. L., CARR, D. H., POZSONYI, J., WILSON, R. A., DUNN, H. G., JACOBSON, T. S., MILLER, J. R., LEWIS, M., & CHOWN, B. (1962). The XXXXY sex chromosome abnormality. Canadian Medical Association Journal, 87, 891-901.
BARR ML, et al. The XXXXY Sex Chromosome Abnormality. Can Med Assoc J. 1962 Oct 27;87:891-901. PubMed PMID: 13969480.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The XXXXY sex chromosome abnormality. AU - BARR,M L, AU - CARR,D H, AU - POZSONYI,J, AU - WILSON,R A, AU - DUNN,H G, AU - JACOBSON,T S, AU - MILLER,J R, AU - LEWIS,M, AU - CHOWN,B, PY - 1962/10/27/pubmed PY - 1962/10/27/medline PY - 1962/10/27/entrez KW - CHROMOSOMES KW - SEX DIFFERENTIATION DISORDERS SP - 891 EP - 901 JF - Canadian Medical Association journal JO - Can Med Assoc J VL - 87 N2 - The most common sex chromosome complex in sex chromatin-positive males with Klinefelter's syndrome is XXY. When the complex is XXYY or XXXY, the clinical findings do not seem to differ materially from those seen in XXY subjects, although more patients with these intersexual chromosome complements need to be studied to establish possible phenotypical expressions of the chromosomal variants.Two male children with an XXXXY sex chromosome abnormality are described. The data obtained from the study of these cases and five others described in the literature suggest that the XXXXY patient is likely to have congenital defects not usually seen in the common form of the Klinefelter syndrome. These include a triad of (1) skeletal anomalies (including radioulnar synostosis), (2) hypogenitalism (hypoplasia of penis and scrotum, incomplete descent of testes and defective prepubertal development of seminiferous tubules), and (3) greater risk of severe mental deficiency.That the conclusions are based on data from a small number of patients is emphasized, together with the need for a cytogenetic survey of a large control or unselected population. SN - 0008-4409 UR - https://www.unboundmedicine.com/medline/citation/13969480/The_XXXXY_sex_chromosome_abnormality_ L2 - https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/13969480/ DB - PRIME DP - Unbound Medicine ER -