Prenatally detected paternal uniparental chromosome 13 isodisomy

A 13q isodisomy in a balanced karyotype: 45, XY,‐13,‐13,+i(13)(q10) was found in cultured amniocytes studied because of advanced maternal age. The isochromosome was monocentric and a new mutation as both parents had normal chromosomes. Fetal blood was studied to exclude 13‐trisomy mosaicism. All (10...

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Bibliographic Details
Published in:Prenatal diagnosis 1998-11, Vol.18 (11), p.1169-1173
Main Authors: Järvelä, Irma, Savukoski, Minna, Ämmälä, Pirkko, Von Koskull, Harriet
Format: Article
Language:English
Subjects:
Adult
Amniocentesis
Biological and medical sciences
Chromosome Aberrations
Chromosomes, Human, Pair 13
Female
Genetic Counseling
Gynecology. Andrology. Obstetrics
Humans
imprinting
isochromosome 13
Isochromosomes
Karyotyping
Management. Prenatal diagnosis
Medical sciences
Microsatellite Repeats
Pregnancy
Pregnancy Outcome
Pregnancy. Fetus. Placenta
Prenatal Diagnosis
Risk Factors
uniparental disomy
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Summary:A 13q isodisomy in a balanced karyotype: 45, XY,‐13,‐13,+i(13)(q10) was found in cultured amniocytes studied because of advanced maternal age. The isochromosome was monocentric and a new mutation as both parents had normal chromosomes. Fetal blood was studied to exclude 13‐trisomy mosaicism. All (100) lymphocytes studied had the same karyotype with i(13)(q10) as the amniocytes. To determine the origin of the isochromosome, six microsatellite markers from 13q were analysed: D13S175, D13S166, D13S162, AC224, COLAC1 and D13S122. The results indicated that the i(13)(q10) was of paternal origin and isodisomic. The father had a risk of 1/20 for being a carrier for an autosomal recessive, progressive brain disorder, variant late infantile neuronal ceroid lipofuscinosis (CLN5). The risk for the fetus for this disorder of chromosome 13 was excluded by haplotype analysis. A healthy child was born at week 40 of pregnancy, supporting the idea that there are no paternally imprinted genes on chromosome 13q. Analysis of extra embryonal tissue (four samples studied) revealed the same balanced karyotype with the i(13)(q10)pat chromosome. According to the cytogenetic and molecular studies, the origin of the isochromosome 13 could be a transverse centromere cleavage at the paternal meiosis II or at an early mitosis. Copyright © 1998 John Wiley & Sons, Ltd.
ISSN:0197-3851
1097-0223
DOI:10.1002/(SICI)1097-0223(199811)18:11<1169::AID-PD409>3.0.CO;2-T