[48,XXYY syndrome in a boy with essential tremor. Comparison with 120 cases from the literature]

F Donati; S Gasser; P Mullis; S Braga; F Vassella

[48,XXYY syndrome in a boy with essential tremor. Comparison with 120 cases from the literature]

Monatsschr Kinderheilkd. 1992 Apr;140(4):216-9.

[Article in German]

Authors

F Donati¹, S Gasser, P Mullis, S Braga, F Vassella

Affiliation

¹ Abteilungen für Kinderneurologie, Medizinische Universitäts-Kinderklini Inselspital Bern.

PMID: 1614446

Abstract

We report on a 14 year-old boy with 48,XXYY karyotype, presenting with essential tremor and a slight retardation of psychomotor development. In contrast to other cases with 48,XXYY syndrome, this pubertal patient has testicles of normal size, has small stature and shows no behavioural disturbances. We compared our patient with 120 other published cases.

Publication types

Case Reports
English Abstract
Review

MeSH terms

Abnormalities, Multiple / diagnosis
Abnormalities, Multiple / genetics
Adolescent
Humans
Intellectual Disability / diagnosis
Intellectual Disability / genetics*
Karyotyping
Male
Sex Chromosome Aberrations / diagnosis
Sex Chromosome Aberrations / genetics*
Syndrome
Tremor / diagnosis
Tremor / genetics*
X Chromosome*
Y Chromosome*