The 47,XXY karyotype and unrelated malformative patterns: an unusual association.
47,XXY chromosome complement is relatively frequent (1/750-1000 male newborns) but has so far not been reported in association with malformative syndromes. Three cases of 47,XXY karyotype associated with an unrelated malformative pattern, the Silver-Russell syndrome in two cases and Noonan syndrome in one case are reported. The possibility of a phenotypic alteration of patients with the XXY karyotype by these malformative syndromes is considered.
Aricò
M
M
Clinica Pediatrica dell'Università, IRCCS Policlinico S. Matteo, Italia.
Colombo
A
A
Maserati
E
E
Pasquali
F
F
Burgio
G R
GR
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002648:Child; D002657:Child Development; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D009634:Noonan Syndrome / Q000235:genetics; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome