Trisomy 10 mosaicism and maternal uniparental disomy 10 in a liveborn infant with severe congenital malformations

Abstract

We report on a liveborn infant with trisomy 10 mosaicism combined with maternal uniparental heterodisomy for chromosome 10. The mosaicism 47,XY,+10/46,XY was found in five different tissues, including one blood sample, while cultured lymphocytes from two other blood samples showed a normal karyotype, 46,XY. DNA analysis with six PCR-based microsatellite markers demonstrated the trisomic cell line to be a result of maternal meiotic nondisjunction, and revealed maternal uniparental heterodisomy in the diploid cell line, suggesting that the formation of the diploid cell line was due to trisomy rescue. The boy had severe growth retardation, major dysmorphism, and malformations, and died at 37 days. We reviewed the previous nine reports of infants and fetuses with trisomy 10 mosaicism reported in the literature. We suggest that a common clinical syndrome can be defined comprising skull, jaw and ear abnormalities, cleft lip/palate, malformations of eyes, heart and kidneys, deformity of hands and feet, and most often death neonatally or in early infancy. The cytogenetic findings in the present patient demonstrate the importance of karyotyping more than one tissue, and not only lymphocytes, when a chromosomal aberration is strongly suspected.

Mosaic trisomy 11 in a fetus with bilateral renal agenesis

“…Chromosome 11 duplications can be associated with renal malformations (2/17 11q23 to qter duplications present with renal malformations). Interestingly, Hahnemann et al (2005) reported a child with low level mosaic chromosome 10 trisomy, who in addition had preaxial polydactyly, blepharophimosis, microphthalmos, iris coloboma, cleft lip and palate and anal atresia. This baby died at 37 days of age.…”

Novel Mutation of the Perforin Gene and Maternal Uniparental Disomy 10 in a Patient With Familial Hemophagocytic Lymphohistiocytosis

“…Trisomy of chromosome 10 has been previously reported. 11 In addition, because the mother of our patient is more than 40 years old, and advanced maternal age increases the risk of trisomy, trisomic rescue would seem to be the more likely mechanism in our case. The formation of abnormal gametes in this case might have been the result of nondisjunction during meiosis I or during meiosis II.…”

Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism

“…Trisomy 10 is a rare lethal chromosomal abnormality, most frequently found in abortion products. Only six liveborn mosaic trisomy 10 infants, with severe malformations, dead in early infancy, have been reported [13]. A severe clinical syndrome can be defined, comprising ear abnormalities, cleft lip/palate, malformations of eyes, heart, and kidneys, and deformity of hands and feet and most often associated with death neonatally or in early infancy [13].…”