Abstract
A prematurely born infant with the manifestations of Down syndrome and congenital monocytic leukemia was found, by Q and R banding, to have the karyotype 48,XY,+21,+21. This appears to be the first case of tetrasomy 21 documented by banding. Clinically, the infant was indistinguishable from trisomic Down syndrome patients. He died at 4 days of respiratory insufficiency owing to hyaline membrane disease and E coli septicemia.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 91-95 |
| Number of pages | 5 |
| Journal | American Journal of Medical Genetics |
| Volume | 12 |
| Issue number | 1 |
| State | Published - 1982 |
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ASJC Scopus subject areas
- Genetics(clinical)
Cite this
Tetrasomy 21 in an infant with Down syndrome and congenital leukemia. / Jabs, E. W.; Stamberg, J.; Leonard, C. O.
In: American Journal of Medical Genetics, Vol. 12, No. 1, 1982, p. 91-95.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Tetrasomy 21 in an infant with Down syndrome and congenital leukemia
AU - Jabs, E. W.
AU - Stamberg, J.
AU - Leonard, C. O.
PY - 1982
Y1 - 1982
N2 - A prematurely born infant with the manifestations of Down syndrome and congenital monocytic leukemia was found, by Q and R banding, to have the karyotype 48,XY,+21,+21. This appears to be the first case of tetrasomy 21 documented by banding. Clinically, the infant was indistinguishable from trisomic Down syndrome patients. He died at 4 days of respiratory insufficiency owing to hyaline membrane disease and E coli septicemia.
AB - A prematurely born infant with the manifestations of Down syndrome and congenital monocytic leukemia was found, by Q and R banding, to have the karyotype 48,XY,+21,+21. This appears to be the first case of tetrasomy 21 documented by banding. Clinically, the infant was indistinguishable from trisomic Down syndrome patients. He died at 4 days of respiratory insufficiency owing to hyaline membrane disease and E coli septicemia.
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UR - http://www.scopus.com/inward/citedby.url?scp=0020032233&partnerID=8YFLogxK
M3 - Article
C2 - 6211984
AN - SCOPUS:0020032233
VL - 12
SP - 91
EP - 95
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 1
ER -