Abstract
A partial trisomy 13q, originating from a maternal translocation, 46,XX,t(3;13) (p26;q22), occurred in a 3-month-old infant, affected by multiple congenital anomalies. A review of the previously reported cases of partial trisomy for the distal segment of the long arm of chromosome 13 is conclusive for the existence of a distinct clinical entity; however, it is difficult to assign particular malformations to specific chromosome bands.
| Original language | English |
|---|---|
| Pages (from-to) | 1115-1117 |
| Number of pages | 3 |
| Journal | American Journal of Diseases of Children |
| Volume | 135 |
| Issue number | 12 |
| DOIs | |
| Publication status | Published - 1981 |
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ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
Cite this
Karyotype-Phenotype Correlation in Partial Trisomy 13 : Report of a Case due to Maternal Translocation. / Bonioli, Eugenio; Vianello, Maria Grazia.
In: American Journal of Diseases of Children, Vol. 135, No. 12, 1981, p. 1115-1117.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Karyotype-Phenotype Correlation in Partial Trisomy 13
T2 - Report of a Case due to Maternal Translocation
AU - Bonioli, Eugenio
AU - Vianello, Maria Grazia
PY - 1981
Y1 - 1981
N2 - A partial trisomy 13q, originating from a maternal translocation, 46,XX,t(3;13) (p26;q22), occurred in a 3-month-old infant, affected by multiple congenital anomalies. A review of the previously reported cases of partial trisomy for the distal segment of the long arm of chromosome 13 is conclusive for the existence of a distinct clinical entity; however, it is difficult to assign particular malformations to specific chromosome bands.
AB - A partial trisomy 13q, originating from a maternal translocation, 46,XX,t(3;13) (p26;q22), occurred in a 3-month-old infant, affected by multiple congenital anomalies. A review of the previously reported cases of partial trisomy for the distal segment of the long arm of chromosome 13 is conclusive for the existence of a distinct clinical entity; however, it is difficult to assign particular malformations to specific chromosome bands.
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UR - http://www.scopus.com/inward/citedby.url?scp=0019780237&partnerID=8YFLogxK
U2 - 10.1001/archpedi.1981.02130360023009
DO - 10.1001/archpedi.1981.02130360023009
M3 - Article
VL - 135
SP - 1115
EP - 1117
JO - Archives of Pediatrics and Adolescent Medicine
JF - Archives of Pediatrics and Adolescent Medicine
SN - 1072-4710
IS - 12
ER -