Familial t(11;13)(q21;q14) and the duplication 11q, 13q phenotype.
Cases of duplication of distal 11q or proximal 13q have been reported independently. A specific translocation resulting in duplication of distal 11q, [der(22)t(11;22)(q23;q11)], has been documented in over 40 cases. We report on a male fetus with chromosomal excess of both distal 11q and proximal 13q resulting from a familial translocation. This case supports the causal association of duplication 11q with neural tube defects.
Park
J P
JP
Department of Pathology, Dartmouth-Hitchcock Medical Center, Lebanon, NH 03756.
McDermet
M K
MK
Doody
A M
AM
Marin-Padilla
J M
JM
Moeschler
J B
JB
Wurster-Hill
D H
DH
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics; D002880:Chromosomes, Human, Pair 11; D002882:Chromosomes, Human, Pair 13; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008297:Male; D005810:Multigene Family; D009436:Neural Tube Defects / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics; D010641:Phenotype; D011247:Pregnancy; D014178:Translocation, Genetic; D016216:Ultrasonography, Prenatal