Trisomy 3q2 and Pierre-Robin sequence in a boy with unbalanced 46,XY, der(10), t(3;10)(q23;q26.3) de novo karyotype.
A partial trisomy of the long arm of chromosome number 3 (3q23----3qter) is reported in a malformed male newborn with a Pierre-Robin sequence. The importance of the detection of chromosomal abnormalities towards the nosology of malformation sequences is discussed.
Kleczkowska
A
A
Centre for Human Genetics, U.Z. Gasthuisberg, Leuven, Belgium.
Fryns
J P
JP
Moerman
F
F
Martens
M
M
Eggermont
E
E
Jaeken
J
J
Van den Berghe
H
H
D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002879:Chromosomes, Human, Pair 10; D002893:Chromosomes, Human, Pair 3; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010855:Pierre Robin Syndrome / Q000235:genetics*; D014178:Translocation, Genetic; D014314:Trisomy