Severe intra-uterine growth retardation in a patient with maternal uniparental disomy 22 and a 22-trisomic placenta.

doi:10.1002/(sici)1097-0223(199911)19:11<1061::aid-pd687>3.0.co;2-q

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Article

Severe intra-uterine growth retardation in a patient with maternal uniparental disomy 22 and a 22-trisomic placenta.

Prenatal diagnosis - 1 Nov 1999

Balmer D, Baumer A, Röthlisberger B, Schinzel A

Abstract excerpt

We report on a maternal uniparental disomy of chromosome 22 in a patient with severe intra-uterine growth retardation. Karyotyping of a placental tissue revealed non-mosaic trisomy 22, whereas lymphocyte chromosomes from the newborn were normal 46,XY. Microsatellite analysis using DNA extracted from white blood cells showed maternal uniparental heterodisomy for chromosome 22. Thus, the conceptus started as...

Topics

Adult
Chromosome Aberrations
Chromosome Disorders
Chromosomes, Human, Pair 22
DNA
Female
Fetal Growth Retardation
Humans
Karyotyping
Lymphocytes
Microsatellite Repeats
Mosaicism
Mothers
Phenotype
Placenta
Pregnancy
Trisomy

Source

Open in PubMed

Identifiers

PMID: 10589061
DOI: 10.1002/(sici)1097-0223(199911)19:11<1061::aid-pd687>3.0.co;2-q

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