Prenatal diagnosis of a homologous Robertsonian translocation involving chromosome 15.
We report the prenatal diagnosis of a fetus with a de novo Robertsonian translocation: 45,XY,der(15;15)(q10;q10). Although Robertsonian translocations are common chromosomal rearrangements, those involving homologous chromosomes are infrequent. Since chromosome 15 is imprinted, uniparental disomy (UPD) is a concern when chromosomal rearrangements involving chromosome 15 are identified. In the present case, UPD studies showed normal biparental inheritance. In contrast to the fact that most homologous acrocentric rearrangements are isochromosomes, these results indicate postzygotic formation of a Robertsonian translocation between biparentally inherited chromosomes 15.
Abrams
D J
DJ
The Genetic Center, The Genetic Centers of America, Owings Mills, MD, USA.
Aronoff
A R
AR
Ann Berend
S
S
Roa
B B
BB
Shaffer
L G
LG
Geier
M R
MR
D000328:Adult; D002884:Chromosomes, Human, Pair 15; D020732:Cytogenetic Analysis; D003937:Diagnosis, Differential; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D008423:Maternal Age; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D018566:Pregnancy, High-Risk; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic / Q000235:genetics*