Trisomy 22 and intersex.
Complete trisomy 22, with or without mosaicism, has been reported as a distinct syndrome. In this report an infant is described who was externally male but with female rudimentary internal organs and whose karyotype was 47,XX+22.
Nicholl
R M
RM
Neonatal Unit, St. Bartholomew's Hospital at Homerton, Hackney, London.
Grimsley
L
L
Butler
L
L
Palmer
R W
RW
Rees
H C
HC
Savage
M O
MO
Costeloe
K
K
D002892:Chromosomes, Human, Pair 22; D012734:Disorders of Sex Development / Q000235:genetics* / Q000473:pathology; D005260:Female; D005836:Genitalia, Female / Q000473:pathology; D005837:Genitalia, Male / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D014314:Trisomy