The fetal pathology of the XXXXY-syndrome

H. Rehder; M. Fraccaro; C. Cuoco; G. Gimelli; E. Porro

The fetal pathology of the XXXXY-syndrome

H. Rehder, M. Fraccaro, C. Cuoco, G. Gimelli, E. Porro

Istituto "Giannina Gaslini"

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	213-218
Number of pages	6
Journal	Clinical Genetics
Volume	30
Issue number	3
Publication status	Published - 1986

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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title = "The fetal pathology of the XXXXY-syndrome",

abstract = "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.",

author = "H. Rehder and M. Fraccaro and C. Cuoco and G. Gimelli and E. Porro",

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AU - Fraccaro, M.

AU - Cuoco, C.

AU - Gimelli, G.

AU - Porro, E.

PY - 1986

Y1 - 1986

N2 - 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.

AB - 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.

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