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Article

Mosaic partial trisomy 17q2.

Journal of medical genetics - 1 Sept 1991

King P A, Ghosh A, Tang M

Abstract excerpt

Examination of an infant born after prenatal diagnosis of mosaic partial trisomy 17q2 showed the unique phenotypic features of this chromosomal abnormality, that is, frontal bossing, large mouth, brachyrhizomelia, and hexadactyly. Amniocentesis was performed because of polyhydramnios and ultrasound diagnosis of fetal craniofacial dysmorphology and rhizomelic shortening of the limbs. Chromosomal mosaicism was...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 1956067
DOI: 10.1136/jmg.28.9.641
PMCID: PMC1015800

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Source receipt: pubmed, retrieved 7 Sept 2026.

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