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Do the 48, XXYY males have a characteristic phenotype? A Review
Author(s) -
Borgaonkar Digamber S.,
Mules Emilie,
Char Florence.
Publication year - 1970
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1970.tb02248.x
Subject(s) - phenotype , biology , short stature , endocrinology , medicine , genetics , gene
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.