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The fetal pathology of the XXXXY‐syndrome
Author(s) -
Rehder Helga,
Fraccaro M.,
Cuoco Cristina,
Gimelli G.,
Porro E.
Publication year - 1986
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.1399-0004.1986.tb00597.x
Subject(s) - pathological , fetus , medicine , pathology , synostosis , prenatal diagnosis , anatomy , pregnancy , biology , genetics
A second case of fetal XXXXY‐syndrome detected by prenatal chromosome analysis is presented. The pathological findings include a facial aspect featuring fetal Down's syndrome, hypogenitalism and hypogonadism with excessive reduction of germ cells and also skeletal abnormalities that may be interpreted as early changes, preceding phalangeal shortening V and radioulnar synostosis.