[Sex chromosome abnormality: report of three clinical cases of X pentasomy]

E Biroli; C Ghimenti; I Ricci; B Pirola; M E Liverani; A Perona; L Galligani; A Guala; G Angeli

[Sex chromosome abnormality: report of three clinical cases of X pentasomy]

Pathologica. 2003 Dec;95(6):444-6.

[Article in Italian]

Authors

E Biroli¹, C Ghimenti, I Ricci, B Pirola, M E Liverani, A Perona, L Galligani, A Guala, G Angeli

Affiliation

¹ Struttura Complessa Anatomia ed Istologia Patologica, Ospedale S. Andrea, ASL 11, Vercelli, Italia.

PMID: 15080523

Abstract

Pentasomy X cases are very few. In this study we describe three clinical cases (two newborn children and a girl in puberal age) of females showing a 49, XXXXX cariotype. The salient phenotypic characteristics of these cases (heart defects, growth deficiency, craniofacial and hand abnormalities) are compared to the clinico-pathological data described in literature.

Publication types

Case Reports
English Abstract
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / genetics*
Abnormalities, Multiple / pathology
Adolescent
Aneuploidy
Chromosomes, Human, X*
Craniofacial Abnormalities / genetics
Dwarfism / genetics
Female
Hand Deformities, Congenital / genetics
Heart Defects, Congenital / genetics
Humans
Infant, Newborn
Karyotyping
Male
Phenotype
Sex Chromosome Disorders / genetics*
Sex Chromosome Disorders / pathology