TY  - JOUR
A1  - Heinrich, T.
A1  - Nanda, I.
A1  - Rehn, M.
A1  - Zollner, U.
A1  - Frieauff, E.
A1  - Wirbelauer, J.
A1  - Grimm, T.
A1  - Schmid, M.
T1  - Live-Born Trisomy 22: Patient Report and Review
JF  - Molecular Syndromology
N2  - Trisomy 22 is a common trisomy in spontaneous abortions. In contrast, live-born trisomy 22 is rarely seen due to severe organ malformations associated with this condition. Here, we report on a male infant with complete, non-mosaic trisomy 22 born at 35 + 5 weeks via caesarean section. Peripheral blood lymphocytes and fibroblasts showed an additional chromosome 22 in all metaphases analyzed (47,XY,+22). In addition, array CGH confirmed complete trisomy 22. The patient’s clinical features included dolichocephalus, hypertelorism, flattened nasal bridge, dysplastic ears with preauricular sinuses and tags, medial cleft palate, anal atresia, and coronary hypospadias with scrotum bipartitum. Essential treatment was implemented in close coordination with the parents. The child died 29 days after birth due to respiratory insufficiency and deterioration of renal function. Our patient’s history complements other reports illustrating that children with complete trisomy 22 may survive until birth and beyond.
KW  - chromosomal abnormality
KW  - live-born
KW  - non-mosaic
KW  - trisomy 22
Y1  - 2013
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-196535
SN  - 1661-8769
SN  - 1661-8777
N1  - This publication is with permission of the rights owner freely accessible due to an Alliance licence and a national licence (funded by the DFG, German Research Foundation) respectively.
VL  - 3
IS  - 6
ER  -