[Sex chromosome abnormality: report of three clinical cases of X pentasomy].
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.
Biroli
E
E
Struttura Complessa Anatomia ed Istologia Patologica, Ospedale S. Andrea, ASL 11, Vercelli, Italia.
Ghimenti
C
C
Ricci
I
I
Pirola
B
B
Liverani
M E
ME
Perona
A
A
Galligani
L
L
Guala
A
A
Angeli
G
G
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D000782:Aneuploidy; D041321:Chromosomes, Human, X; D019465:Craniofacial Abnormalities / Q000235:genetics; D004392:Dwarfism / Q000235:genetics; D005260:Female; D006228:Hand Deformities, Congenital / Q000235:genetics; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D025064:Sex Chromosome Disorders / Q000235:genetics* / Q000473:pathology