Trisomy 10p syndrome owing to maternal pericentric inversion.
A female infant with karyotype 46,XX,rec(10),dup p inv(10)(p11.2q25.2)mat is presented. She had both duplication of 10p and deletion of distal 10q, but only had the constellation of specific features characteristic of duplication of 10p.
Ohba
K
K
Department of Paediatrics, Miyazaki Medical College, Japan.
Ohdo
S
S
Sonoda
T
T
D007446:Chromosome Inversion; D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10; D005149:Facial Expression; D005260:Female; D006801:Humans; D007223:Infant; D013577:Syndrome; D013921:Thrombocytopenia; D014314:Trisomy