Prenatal detection of mosaic isochromosome 20q: a fourth report with abnormal phenotype.

doi:10.1002/pd.1216

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Article

Prenatal detection of mosaic isochromosome 20q: a fourth report with abnormal phenotype.

Prenatal diagnosis - 1 Aug 2005

Goumy C, Beaufrère A M, Francannet C, Tchirkov A, Laurichesse Delmas H, Geissler F, Lemery D, Dechelotte P J, Vago P

Abstract excerpt

We described a new case of mosaic isochromosome 20q revealed by amniocentesis. The propositus presented with craniofacial dysmorphism, clubfeet, and vertebral abnormalities. A 46,XX,i(20)(q10)[14]/46,XX[1] karyotype was confirmed by FISH on cultured cells. The pregnancy was terminated. From review of literature, fetus with mosaic isochromosome 20q identified on amniocentesis are most likely to be phenotypically...

Topics

Abnormalities, Multiple
Adult
Chromosomes, Human, Pair 20
Clubfoot
Craniofacial Abnormalities
Female
Fetal Growth Retardation
Gestational Age
Humans
Hydrocephalus
In Situ Hybridization, Fluorescence
Isochromosomes
Male
Mosaicism

Source

Open in PubMed

Identifiers

PMID: 16049989
DOI: 10.1002/pd.1216

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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Phenotype

Pregnancy

Spine

Ultrasonography, Prenatal