Partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion of chromosome 5.

doi:10.1007/BF01874142

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Article

Partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion of chromosome 5.

The Japanese journal of human genetics - 1 Sept 1993

Ono K, Ohashi Y, Nakano H, Togashi H, Kannari Y, Isono S

Abstract excerpt

A male infant with partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion of chromosome 5 (46,XY,rec(5), dup q,inv(5)(p15.1q35.1)pat) is reported together with the oral findings. The phenotype was chiefly the cri-du-chat syndrome. Severe retardation of mental and motor d...

Topics

Adult
Aneuploidy
Child, Preschool
Chromosome Inversion
Chromosomes, Human, Pair 5
Cri-du-Chat Syndrome
Female
Follow-Up Studies
Humans
Infant
Infant, Newborn
Karyotyping
Male
Monosomy
Phenotype
Trisomy

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