Array comparative genomic hybridization

Birth of a healthy child by a woman with inherited Xq duplications who had experienced stillbirths

Y. Dong, Chen, S. C., Yu, X. W., Fadlalla, E., Jin, F., and Liu, R. Z., “Birth of a healthy child by a woman with inherited Xq duplications who had experienced stillbirths”, vol. 13, pp. 4573-4578, 2014.

A 23-year-old woman who had experienced repeated stillbirths, was found to carry an additional segment on the long arm of the X chromosome. Array comparative genomic hybridization (aCGH) confirmed the origin of the 2 duplications (about 17.11 Mb). Thus, her karyotype was 46, X, dup (X) (q13.2-q21.1), dup(X) (q21.32-q22.1). We demonstrate that aCGH is a useful complementary tool to cytogenetic analysis for accurately determining banding. To our knowledge, this is the first case with normal apparently phenotype who inherited 2 duplications on Xq.

Smallest critical region for microcephaly in a patient with mosaic ring chromosome 13

P. - H. Su, Chen, C. - P., Su, Y. - N., Chen, S. - J., Lin, L. - L., and Chen, J. - Y., “Smallest critical region for microcephaly in a patient with mosaic ring chromosome 13”, vol. 12. pp. 1311-1317, 2013.

A ring chromosome 13 or r(13) exhibits breakage and reunion at breakage points on the long and short arms of chromosome 13, with deletions of the chromosomal segments distal to the breakage points. The r(13) chromosome accounts for approximately 20% of ring chromosomes compatible with life. We describe a female patient with mental retardation, growth retardation, microcephaly, craniofacial dysmorphy, hearing impairment, and prolonged prothrombin time.

Prenatal diagnosis of a partial trisomy 13q (q14→qter): phenotype, cytogenetics and molecular characterization by spectral karyotyping and array comparative genomic hybridization

I. N. Machado, Heinrich, J. K., Campanhol, C., Rodrigues-Peres, R. M., Oliveira, F. M., and Barini, R., “Prenatal diagnosis of a partial trisomy 13q (q14→qter): phenotype, cytogenetics and molecular characterization by spectral karyotyping and array comparative genomic hybridization”, vol. 9, pp. 441-448, 2010.

Partial trisomy 13q is an uncommon chromosomal abnormality with variable phenotypic expression. We report prenatal diagnosis of partial trisomy 13q in a fetus with partial agenesis of the cerebellar vermis, partial agenesis of the corpus callosum, hydrops and polyhydramnios. G-banding karyotyping, spectral karyotyping and array comparative genomic hybridization (aCGH) analysis of fetal blood were performed. Cytogenetic analysis of fetal blood displayed 46,XX,add(4)(q28). The parental karyotypes were normal. A girl was delivered at 34 weeks gestation; she died within 2 h.

Copy number imbalances detected with a BAC-based array comparative genomic hybridization platform in congenital diaphragmatic hernia fetuses

I. N. Machado, Heinrich, J. K., Barini, R., and Peralta, C. F. A., “Copy number imbalances detected with a BAC-based array comparative genomic hybridization platform in congenital diaphragmatic hernia fetuses”, vol. 10, pp. 261-267, 2011.

Congenital diaphragmatic hernia (CDH) is a phenotypically and genetically heterogeneous disorder, with a complex inheritance pattern. Structural abnormalities of almost all chromosomes have been described in association with CDH. We made a molecular analysis through array comparative genomic hybridization (array CGH) of a group of fetuses with prenatal ultrasound diagnosis of CDH and normal G-banded karyotypes.

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