Prenatal Diagnosis and Postnatal Followup of Partial Trisomy 13q and Partial Monosomy 10p: A Case Report and Review of the Literature

Abstract

We report prenatal diagnosis and postnatal findings of a fetus with partial trisomy of 13q21.33-qter and partial monosomy of 10p15.3-pter. The mother is a known carrier of a balanced translocation, t(10;13)(p15.3;q21.33), ascertained by history of one miscarriage and two neonatal deaths. The fetal karyotyping on cultured amniocytes showed 46,XX,der(10)t(10;13)(p15.3;q21.33). Oligonucleotide array comparative genomic hybridization (aCGH) defined a 2.339 Mb distal deletion at 10p15.3 (chr10:126,161–2,465,089) and a 46.344 Mb duplication of 13q21.33–q34 (chr13:67,779,708–114,123,540). Ultrasound examination showed polydactyly and polyhydramnios in the fetus. After genetic counseling, the mother decided to continue the pregnancy, and follow-up ultrasound monitoring found no further abnormalities. A girl was delivered at 37+6 weeks of gestation and was transferred to the intensive care unit for intermittent convulsions within 26 hours. She was diagnosed with neonatal hypoxic ischemic encephalopathy and experienced several episodes of apnea in the following month. Her birth weight was 2900 g (10–25th centile) and at five months was 5500 g (5–10th centile). She had dysmorphic features and mild psychomotor retardation. A review of the literature found three previously reported cases with similar compound 10p/13q abnormalities. We discuss a two-step approach to assess fetal viability and phenotype using genomic information from partial trisomy and monosomy.

Integrated FISH, Karyotyping and aCGH Analyses for Effective Prenatal Diagnosis of Common Aneuploidies and Other Cytogenomic Abnormalities

“…Other chromosome structural rearrangements undetectable by aneuvysion FISH were noted in four cases (cases 14–17) by chromosome analysis. These results support that chromosome analysis is still an important method on detecting balanced and unbalanced structural rearrangements [19]. Furthermore, pCNV were detected in five cases (cases 18–22) by aCGH analysis.…”

Detection of cytogenomic abnormalities by OncoScan microarray assay for products of conception from formalin-fixed paraffin-embedded and fresh fetal tissues

“…Microarray analysis has been effective to detect all numerical chromosomal abnormalities and to de ne genomic imbalances and rearrangement break points from unbalanced structural chromosomal abnormalities. Identifying carriers of a balanced translocation and tracking unbalanced derivative chromosomes in their fetuses has been a standard procedure for recurrent pregnancy loss [4,13,14]. Earlier studies suggested that POC-CF may be related to particular chromosomal imbalances such as autosomal monosomies which could be incompatible with cell proliferation under in vitro cell culture [15,16].…”

Partial monosomy 1q43 and partial trisomy 20q13.2: a case report

“…Genetically unbalanced gametes with a partial monosomy and partial trisomy are produced from carriers of a balanced reciprocal translocation (Wei et al, 2012). These unbalanced products are at an increased risk of miscarriage or conception of a phenotypically and molecularly abnormal offspring.…”

“…These unbalanced products are at an increased risk of miscarriage or conception of a phenotypically and molecularly abnormal offspring. The genotype-phenotype correlation is inferred by reviewing cases with similar genetic abnormalities in the literature (Wei et al, 2012).…”