Prenatal detection of de novo paracentric inversion 46, XX inv (14) (q22q32.1) in a normal child: report and review of the literature.
We present prenatal diagnosis and follow-up examination of an individual with a de novo paracentric inversion of the long are of chromosome 14. A literature search documented 19 other cases of paracentric inversion of 14q. The outcome of each of these cases is specified together with that of this current case. Four of the 20 cases, all XY, manifested significant abnormalities with mental retardation and microcephaly present in 3 of the 4 cases; 15% (2/13) of familial cases had abnormalities and 40% (2/5) of de novo cases had abnormalities.
Hales
H A
HA
Department of Obstetrics and Gynecology, University of Utah Medical Center, Salt Lake City 84132.
Peterson
C M
CM
Carey
J
J
Hecht
B K
BK
Hecht
F
F
D000328:Adult; D000649:Amniocentesis; D002871:Chromosome Banding; D007446:Chromosome Inversion; D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014960:X Chromosome; D014998:Y Chromosome