A Chromosome Survey in 40 Sexually Abnormal Patients

Takagi, Nobuo; Makita, Tokutaro; Kato, Hatao; Takai, Shudo; Hikita, Masahiro

doi:10.1266/jjg.41.1

Cited by 5 publications

(1 citation statement)

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“…Out of the three 48,XXYY patients in the age group 12-16 years who had gynecomastia, two had small sized testes. Smallness of testes appears to be a fairly uniform feature of the 48,XXYY males; and according to Ferguson-Smith (1966), it is also present in 100 % of the 47,XXY adult males; but there are reports of normal size testes in 47,XXY boys under 16 years of age (Takagi et al 1966). Several hypogonadal males with 47,XYY karyotype have been reported but the karyotype-phenotype relationship is not well established (Balodimos et al 1966).…”

Section: Commentsmentioning

confidence: 99%

Do the 48, XXYY males have a characteristic phenotype? A Review

1970

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Data on fifty‐three patients with 48, XXYY chromosome complement were collected from the literature and personal correspondence and reviewed with the objective of delineating a ‘uniform phenotype.’ Although no single stigma was found to be characteristic of the 48, XXYY males, tall stature, low upper segment/lower segment ratio, mental retardation, and behavior problems in a phenotypic male (including prepubertal age group) should raise the question of a 48, XXYY chromosome basic defect. In the majority of cases testicular biopsies revealed varying degrees of atrophy, levels of FSH were elevated, and 17 KS were low to normal, both characteristics being comparable to those found in 47, XXY males. Dermatoglyphic changes were found to be reduced total finger ridge count, increased frequency of arches on fingers, presence of a hypothenar pattern, distally placed triradius, and occasional qimian crease.

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Section: Commentsmentioning

confidence: 99%