Hypotriploidy 68,XX: a new case report and review of earlier cases.
We report a prematurely born patient with a 68,XX karyotype. She presented with syndactyly of 2nd and 3rd toes, minor facial features, microcephaly, slender hands, bicuspid aortic valve, patent ductus arteriosus and hypotonia. Comparison with other reported cases is given.
Hoedemaekers
Y M
YM
Department of Neonatology, Maxima Medisch Centrum Veldhoven, 5500 MB Veldhoven, The Netherlands.
De Kleine
M J K
MJ
Stevens-Kroef
M J P L
MJ
Smeets
E E J
EE
Schrander-Stumpel
C T R M
CT
D001021:Aortic Valve / Q000002:abnormalities; D002869:Chromosome Aberrations; D004374:Ductus Arteriosus, Patent / Q000150:complications; D005145:Face / Q000002:abnormalities; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008831:Microcephaly / Q000150:complications / Q000235:genetics; D009123:Muscle Hypotonia / Q000150:complications; D011003:Ploidies; D013576:Syndactyly / Q000150:complications / Q000235:genetics