Partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion 5(p15.1q35.1).
A male infant with karyotype 46,XY,rec(5),dup q,inv(5)(p15.1 q35.1)pat is presented. The proband showed growth and developmental retardation, complex cardiovascular abnormalities, inguinal hernia and microcephaly in addition to facial appearance and cat-like cry characteristic of the cri-du-chat syndrome. Growth and developmental retardation, and microcephaly noted in this patient were markedly more serious than those observed in patients either with partial monosomy 5p or with partial trisomy 5q alone.
Sonoda
T
T
Kawaguchi
K
K
Ohba
K
K
Madokoro
H
H
Ohdo
S
S
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D007446:Chromosome Inversion; D002895:Chromosomes, Human, Pair 5; D003241:Consanguinity; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D009006:Monosomy; D014314:Trisomy