An infant with an XXXYY karyotype

An infant with mild retardation of psychomotor development and ambiguous genitalia was found to have a 49, XXXYY karyotype. The identity of the chromosomes was established by different banding methods, both fluorescent and non‐fluorescent. An attempt was made to find the origin of the extra X chromosomes by testing the Xg blood group in the whole family. An evaluation of the clinical features exhibited by male patients with different sex chromosome configurations is given in relation to the excess of X and Y chromosomes.

[1]  Xue-Wen Wang,et al.  Standardization in human cytogenetics. , 1967, Birth defects original article series.

[2]  U. Friedrich,et al.  Chromosome studies in 5,049 consecutive newborn children , 1973, Clinical genetics.

[3]  M. Ridler,et al.  An adult male with XYYY sex chromosomes , 1973, Clinical genetics.

[4]  A. T. Sumner,et al.  New technique for distinguishing between human chromosomes. , 1971, Nature: New biology.

[5]  F. Sergovich,et al.  The 49,XXXXX chromosome constitution: similarities to the 49,XXXXY condition. , 1971, The Journal of pediatrics.

[6]  E. Mules,et al.  Do the 48, XXYY males have a characteristic phenotype? A Review , 1970 .

[7]  M. F. Christensen,et al.  A CASE OF THE XXXXY CHROMOSOME ANOMALY WITH FOUR MATERNAL X CHROMOSOMES AND DIABETIC GLUCOSE TOLERANCE , 1970, Acta paediatrica Scandinavica.

[8]  F. Hecht.  Human afflictions and chromosomal aberrations , 1970 .

[9]  K. Hirschhorn,et al.  XXXXY boy. A 15-month-old child with normal intellectual development. , 1970, American journal of diseases of children.

[10]  P. Schaefer,et al.  [Gonadosomal dysgenesia with 49 chromosomes]. , 1969, Annales de pediatrie.

[11]  P. Schaefer,et al.  La dysgénésie gonadosomatique à 49 chromosomes. , 1969 .

[12]  R. Sanger,et al.  Xg and sex-chromosome abnormalities. , 1969, British medical bulletin.

[13]  J. Cassiman,et al.  A male with 4 Y-chromosomes. , 1968, The Journal of clinical endocrinology and metabolism.

[14]  M. Gracey,et al.  THE XXYYY SEX CHROMOSOME COMPLEMENT IN A MENTALLY RETARDED CHILD A Case Report , 1967 .

[15]  H. Evans.  A SIMPLE MICROTECHNIQUE FOR OBTAINING HUMAN CHROMOSOME PREPARATIONS WITH SOME COMMENTS ON DNA REPLICATION IN SEX CHROMOSOMES OF THE GOAT, COW AND PIG. , 1965, Experimental cell research.

[16]  P. L. Townes,et al.  A PATIENT WITH 48 CHROMOSOMES (XYYY). , 1965, Lancet.

[17]  A. Fro̸land,et al.  SOURCE OF THE X CHROMOSOMES IN TWO XXXXY MALES. , 1964, Lancet.

[18]  P. Bray,et al.  An XXXYY sex-chromosome anomaly. Report of a mentally deficient male. , 1963, JAMA.

[19]  J. Lindsten,et al.  A child with 49 chromosomes. , 1960, Lancet.

[20]  C. H. Ockey,et al.  THE "DOUBLE MALE": A NEW CHROMOSOME CONSTITUTION IN KLINEFELTER'S SYNDROME , 1960 .

[21]  M. Ferguson-Smith,et al.  Primary amentia and micro-orchidism associated with an XXXY sex-chromosome constitution. , 1960, Lancet.

[22]  P. Jacobs,et al.  A Case of Human Intersexuality Having a Possible XXY Sex-Determining Mechanism , 1959, Nature.

[23]  F. Albright,et al.  Syndrome Characterized by Gynecomastia, Aspermatogenesis without A-Leydigism, and Increased Excretion of Follicle-Stimulating Hormone1 , 1942 .