Abstract
ObjectiveThis study aimed to report a fetus with maternal partial trisomy 9p and 14q and the phenotype detected in ultrasound.MethodsThe chromosome rearrangements in the fetus were characterized by G-banding and chromosome microarray analysis based on single nucleotide polymorphism (SNP) array of cultured amniocytes and compared with the parents’ karyotypes.ResultsThe fetal abnormal karyotype was 47,XY,+der(14)(9;14)(p23;q22). The SNP array revealed a duplicate 11.8-Mb 9p23-p24.3 fragment and a duplicate 29.6-Mb 14q11.2-q21.3 fragment. The peripheral blood karyotype of the mother was 46,XX,t(9;14)(p23;q22), while the father’s was normal at the level of 300~400 bands. A high-resolution karyotype analysis conformed the same abnormality of the mother at the level of 550~650 bands. These results indicated that the fetal chromosomal abnormality probably derived from the mother. The fetal nuchal translucency thickness was 3.5 mm, and the fetal heart was detected with around 1.0-mm ventricular defect by the ultrasound examination at 12-week gestation. The couple decided to terminate the pregnancy. They opted for in vitro fertilization and embryo transfer for the fourth pregnancy, which was successful.ConclusionsThe SNP array combined with cytogenetic analysis was particularly effective in identifying abnormal chromosomal rearrangements. These methods combined with the existing database information and fetal ultrasonography might provide a comprehensive and efficient way for the prenatal assessment of fetal situations. Preimplantation genetic diagnosis might effectively assist those women with an adverse pregnancy history in their next pregnancy.
Highlights
Trisomy 9p is one of the most abnormal chromosomes in newborns
This study aimed to report a fetus inheriting maternal derivative chromosome 14 with partial 9p24.3p23 and 14q11.2q21.3 duplications and abnormal phenotype, which was detected by ultrasound examination
There was mostly apparent consistency in the facial and limb anomalies and developmental delay and mental retardation in the patients with partial trisomy 9p and 14q which might vary in degree listed in the tables above
Summary
Trisomy 9p is one of the most abnormal chromosomes in newborns. The case of partial 9p and 14q trisomy has been reported only once to date [1]. Chromosome trisomy is usually caused by the nondisjunction of homologous chromosomes during gamete formation, especially from the balanced translocation (2020) 13:6 in clinical syndromes [3, 4]. The derived duplication from 14q11.2 to 14q22.3 indicated severe physical and mental retardation defects [5]. The forkhead box protein G1 (FOXG1) gene encompassed on 14q11.2 to 14q12 could cause severe epilepsy and developmental delay and severe speech impairment [6, 7]. This study aimed to report a fetus inheriting maternal derivative chromosome 14 with partial 9p24.3p23 and 14q11.2q21.3 duplications and abnormal phenotype, which was detected by ultrasound examination
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