Abstract
We report on a female infant with partial deletion of the short arm of chromosome 18 (del 18p) and heterotaxy with left atrial isomerism. Congenital heart defect (CHD) is found in 10% of the literature reports. Interestingly, situs abnormalities have been diagnosed in four patients with del 18p, including ours. This finding could imply that a locus or loci involved in the development of normal body situs lies within this chromosomal region. Del 18p must be considered when evaluating a patient with phenotypic anomalies and CHD in lateralization defects. (C) 2000 Wiley-Liss, Inc.
| Original language | English |
|---|---|
| Pages (from-to) | 198-200 |
| Number of pages | 3 |
| Journal | American Journal of Medical Genetics |
| Volume | 94 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - Sep 18 2000 |
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Keywords
- Congenital heart defect
- Deletion 18p
- Heterotaxy
- Lateralization defect
- Situs viscerum abnormalities
ASJC Scopus subject areas
- Genetics(clinical)
Cite this
Heterotaxy with left atrial isomerism in a patient with deletion 18p. / Digilio, Maria Cristina; Marino, Bruno; Giannotti, Aldo; Donato, Roberto Di; Dallapiccola, Bruno.
In: American Journal of Medical Genetics, Vol. 94, No. 3, 18.09.2000, p. 198-200.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Heterotaxy with left atrial isomerism in a patient with deletion 18p
AU - Digilio, Maria Cristina
AU - Marino, Bruno
AU - Giannotti, Aldo
AU - Donato, Roberto Di
AU - Dallapiccola, Bruno
PY - 2000/9/18
Y1 - 2000/9/18
N2 - We report on a female infant with partial deletion of the short arm of chromosome 18 (del 18p) and heterotaxy with left atrial isomerism. Congenital heart defect (CHD) is found in 10% of the literature reports. Interestingly, situs abnormalities have been diagnosed in four patients with del 18p, including ours. This finding could imply that a locus or loci involved in the development of normal body situs lies within this chromosomal region. Del 18p must be considered when evaluating a patient with phenotypic anomalies and CHD in lateralization defects. (C) 2000 Wiley-Liss, Inc.
AB - We report on a female infant with partial deletion of the short arm of chromosome 18 (del 18p) and heterotaxy with left atrial isomerism. Congenital heart defect (CHD) is found in 10% of the literature reports. Interestingly, situs abnormalities have been diagnosed in four patients with del 18p, including ours. This finding could imply that a locus or loci involved in the development of normal body situs lies within this chromosomal region. Del 18p must be considered when evaluating a patient with phenotypic anomalies and CHD in lateralization defects. (C) 2000 Wiley-Liss, Inc.
KW - Congenital heart defect
KW - Deletion 18p
KW - Heterotaxy
KW - Lateralization defect
KW - Situs viscerum abnormalities
UR - http://www.scopus.com/inward/record.url?scp=0034684042&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0034684042&partnerID=8YFLogxK
U2 - 10.1002/1096-8628(20000918)94:3<198::AID-AJMG4>3.0.CO;2-9
DO - 10.1002/1096-8628(20000918)94:3<198::AID-AJMG4>3.0.CO;2-9
M3 - Article
C2 - 10995505
AN - SCOPUS:0034684042
VL - 94
SP - 198
EP - 200
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 3
ER -