Further contribution to the description of phenotypes associated with partial 4q duplication.

doi:10.1002/ajmg.1320570116

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Article

Further contribution to the description of phenotypes associated with partial 4q duplication.

American journal of medical genetics - 22 May 1995

Zollino M, Zampino G, Torrioli G, Pomponi M G, Neri G

Abstract excerpt

We report on a 15-year-old girl with a previously undescribed de novo duplication of segment 4q13.1-->q22.2. The origin of the extrachromosomal material on 4q was unequivocally established by fluorescent in situ hybridization with a chromosome 4 painting probe. Clinical manifestations included mo...

Topics

Abnormalities, Multiple
Adolescent
Chromosome Mapping
Chromosomes, Human, Pair 4
Dermatoglyphics
Female
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Male
Phenotype
Trisomy

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