Maternal uniparental disomy of chromosome 16 in a case of spontaneous abortion.
To investigate the involvement of uniparental disomies (UPDs) in spontaneous abortions, we analyzed in detail the polymorphism of microsatellites on each chromosome in cases of abortion. Of the 52 spontaneous abortions investigated, 25 had a normal karyotype. The polymorphic analysis of these cases revealed that, in the villi from 24 of the 25 cases, biparental patterns were present in informative microsatellites in all autosomes. In the remaining case with a 46,XX karyotype (case 18), however, the informative patterns of the microsatellites of chromosome 16 appeared to be both of maternal origin. The results also showed that the region from the distal end of the short arm to near the middle point of the long arm of chromosome 16 (pter to D16S3107) were heterozygous, and those of the remaining region of the long arm (D16S3018 to qter) were homozygous. That is, this fetus had maternal isodisomy and heterodisomy of chromosome 16, originating from a maternal, meiosis I non-disjunction of dyad 16 that accompanied a crossover at near the middle point of the long arm. The present finding suggests that some UPDs may become a cause for spontaneous abortions.
Kondo
Yuko
Y
Department of Obstetrics and Gynecology, Nagoya City University Medical School, Nagoya 467-8601, Japan.|Department of Obstetrics and Gynecology, Moriyama Municipal Hospital, Nagoya 463-8567, Japan.
Tsukishiro
Sami
S
Department of Obstetrics and Gynecology, Nagoya City University Medical School, Nagoya 467-8601, Japan.
Tanemura
Mitsuyo
M
Department of Obstetrics and Gynecology, Nagoya City University Medical School, Nagoya 467-8601, Japan.
Sugiura-Ogasawara
Mayumi
M
Department of Obstetrics and Gynecology, Nagoya City University Medical School, Nagoya 467-8601, Japan.
Suzumori
Kaoru
K
Department of Obstetrics and Gynecology, Nagoya City University Medical School, Nagoya 467-8601, Japan.
Sonta
Shin-Ichi
SI
Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, 713-8 Kamiya-cho, Kasugai, Aichi 480-0392, Japan. ssonta@inst-hsc.jp.
D000022:Abortion, Spontaneous / Q000235:genetics*; D000328:Adult; D015193:Chorionic Villi Sampling; D002885:Chromosomes, Human, Pair 16; D004247:DNA / Q000032:analysis; D005260:Female; D005333:Fetus / Q000737:chemistry; D018392:Genomic Imprinting; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007621:Karyotyping; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D024182:Uniparental Disomy
D004247:DNA