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.
Heterotaxy with left atrial isomerism in a patient with deletion 18p / Maria Cristina, Digilio; MARINO TAUSSIG DE BODONIA, Bruno; Aldo, Giannotti; Roberto Di, Donato; Bruno, Dallapiccola. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. - ISSN 0148-7299. - 94:3(2000), pp. 198-200. [10.1002/1096-8628(20000918)94:3<198::aid-ajmg4>3.0.co;2-9]
Heterotaxy with left atrial isomerism in a patient with deletion 18p
MARINO TAUSSIG DE BODONIA, Bruno;
2000
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
