The XXXXY chromosome anomaly: report of three new cases and review of 30 cases from the literature.
Journal: 1966/July - CMAJ
ISSN: 0008-4409
PUBMED: 4222822
Abstract:
The majority of abnormal sex chromosome complexes in the male have been considered to be variants of Klinefelter's syndrome but an exception should probably be made in the case of the XXXXY individual who has distinctive phenotypic features. Clinical, radiological and cytological data on three new cases of XXXXY syndrome are presented and 30 cases from the literature are reviewed. In many cases the published clinical and radiological data were supplemented and re-evaluated. Mental retardation, usually severe, was present in all cases. Typical facies was observed in many; clinodactyly of the fifth finger was seen in nearly all.Radiological examination revealed abnormalities in the elbows and wrists in all the 19 personally evaluated cases, and other skeletal anomalies were very frequent. Cryptorchism is very common and absence of Leydig's cells may differentiate the XXXXY chromosome anomaly from polysomic variants of Klinefelter's syndrome. The relationship of this syndrome to Klinefelter's syndrome and to Down's syndrome is discussed.
Relations:
Content
Citations
(13)
References
(19)
Diseases
(3)
Conditions
(2)
Organisms
(1)
Anatomy
(4)
Similar articles
Articles by the same authors
Discussion board
Can Med Assoc J 94(22): 1143-1154

The XXXXY Chromosome Anomaly

Abstract

The majority of abnormal sex chromosome complexes in the male have been considered to be variants of Klinefelter's syndrome but an exception should probably be made in the case of the XXXXY individual who has distinctive phenotypic features. Clinical, radiological and cytological data on three new cases of XXXXY syndrome are presented and 30 cases from the literature are reviewed. In many cases the published clinical and radiological data were supplemented and re-evaluated. Mental retardation, usually severe, was present in all cases. Typical facies was observed in many; clinodactyly of the fifth finger was seen in nearly all.

Radiological examination revealed abnormalities in the elbows and wrists in all the 19 personally evaluated cases, and other skeletal anomalies were very frequent. Cryptorchism is very common and absence of Leydig's cells may differentiate the XXXXY chromosome anomaly from polysomic variants of Klinefelter's syndrome. The relationship of this syndrome to Klinefelter's syndrome and to Down's syndrome is discussed.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (3.9M), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.

Images in this article

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • FRACCARO M, KAIJSER K, LINDSTEN J. A child with 49 chromosomes. Lancet. 1960 Oct 22;2(7156):899–902. [PubMed] [Google Scholar]
  • PFEIFFER RA. [Contribution to the clinical picture of XXXXY-constitution]. Z Kinderheilkd. 1962;87:356–369. [PubMed] [Google Scholar]
  • DELACHAPELLE A. SEX CHROMOSOME ABNORMALITIES AMONG THE MENTALLY DEFECTIVE IN FINLAND. J Ment Defic Res. 1963 Dec;7:129–146. [PubMed] [Google Scholar]
  • SCHADE H, SCHOELLER L, TOEBERG G. [A patient with XXXXY-chromosomes]. Med Welt. 1963 Apr 20;16:869–872. [PubMed] [Google Scholar]
  • DAY RW, LEVINSON J, LARSON W, WRIGHT SW. AN XXXXY MALE. CASE REPORT AND REVIEW. J Pediatr. 1963 Oct;63:589–598. [PubMed] [Google Scholar]
  • SCHERZ RG, ROECKEL IE. THE XXXXY SYNDROME. A REPORT OF A CASE AND REVIEW OF THE LITERATURE. J Pediatr. 1963 Dec;63:1093–1098. [PubMed] [Google Scholar]
  • JOSEPH MC, ANDERS JM, TAYLOR AI. A BOY WITH XXXXY SEX CHROMOSOMES. J Med Genet. 1964 Dec;1(2):95–101.[PMC free article] [PubMed] [Google Scholar]
  • COLES HM. KLINEFELTER'S SYNDROME (XXXXY VARIANT). Proc R Soc Med. 1964 Sep;57:842–842.[PMC free article] [PubMed] [Google Scholar]
  • ANDERS G, PRADER A, HAUSCHTECK E, SCHAERER K, SIEBENMANN RE, HELLER R. [Multiple sex chromatin and complex chromosomal mosaic in a boy with idiocy and multiple abnormalities]. Helv Paediatr Acta. 1960 Dec;15:515–532. [PubMed] [Google Scholar]
  • TURNER B, DENDULK GM. THE XXXXY SYNDROME. Med J Aust. 1963 Oct 26;2:715–716. [PubMed] [Google Scholar]
  • Ying KL, Gerrard JW. A service for human chromosome studies in Saskatchewan. Can Med Assoc J. 1966 Mar 26;94(13):646–648.[PMC free article] [PubMed] [Google Scholar]
  • CARR DH. Chromosomal abnormalities and their relation to disease. Can Med Assoc J. 1963 Mar 2;88:456–461.[PMC free article] [PubMed] [Google Scholar]
  • SIMONIN R, STAHL A, ROUX H. LES ANOMALIES CHROMOSOMIQUES DANS LE SYNDROME DE KLINEFELTER. Pathol Biol. 1963 Nov;11:1178–1185. [PubMed] [Google Scholar]
  • MOSIER HD, SCOTT LW, COTTER LH. The frequency of the positive sex-chromatin pattern in males with mental deficiency. Pediatrics. 1960 Feb;25:291–297. [PubMed] [Google Scholar]
  • HARNDEN DG, MILLER OJ, PENROSE LS. The Klinefeltermongolism type of double aneuploidy. Ann Hum Genet. 1960 May;24:165–169. [PubMed] [Google Scholar]
  • LANMAN JT, SKLARIN BS, COOPER HL, HIRSCHHORN K. Klinefelter's syndrome in a ten-month-old mongolian idiot: report of a case with chromosome analysis. N Engl J Med. 1960 Nov 3;263:887–890. [PubMed] [Google Scholar]
  • LEHMANN O, FORSSMAN H. Klinefelter's syndrome and mongolism in the same person. Acta Paediatr. 1960 Jul;49:536–539. [PubMed] [Google Scholar]
  • HAMERTON JL, JAGIELLO GM, KIRMAN BH. Sex-chromosome abnormalities in a population of mentally defective children. Br Med J. 1962 Jan 27;1(5273):220–223.[PMC free article] [PubMed] [Google Scholar]
  • KESAREE N, WOOLLEY PV., Jr A PHENOTYPIC FEMALE WITH 49 CHROMOSOMES, PRESUMABLY XXXXX. A CASE REPORT. J Pediatr. 1963 Dec;63:1099–1103. [PubMed] [Google Scholar]
Abstract
The majority of abnormal sex chromosome complexes in the male have been considered to be variants of Klinefelter's syndrome but an exception should probably be made in the case of the XXXXY individual who has distinctive phenotypic features. Clinical, radiological and cytological data on three new cases of XXXXY syndrome are presented and 30 cases from the literature are reviewed. In many cases the published clinical and radiological data were supplemented and re-evaluated. Mental retardation, usually severe, was present in all cases. Typical facies was observed in many; clinodactyly of the fifth finger was seen in nearly all.
Radiological examination revealed abnormalities in the elbows and wrists in all the 19 personally evaluated cases, and other skeletal anomalies were very frequent. Cryptorchism is very common and absence of Leydig's cells may differentiate the XXXXY chromosome anomaly from polysomic variants of Klinefelter's syndrome. The relationship of this syndrome to Klinefelter's syndrome and to Down's syndrome is discussed.
Collaboration tool especially designed for Life Science professionals.Drag-and-drop any entity to your messages.