Mosaicism trisomy 10 in a 14-month-old child with additional neurological abnormalities: case report and literature review
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Trisomy 10 is very rarely diagnosed, especially in living persons. Most reports of trisomy 10 pertain to prenatal diagnosis of trisomy 10 in the fetus. In addition, trisomy 10 has been reported as part of partial chromosomal abnormalities in some leukemic cells and tumor specimens. Only 6 cases of mosaicism trisomy 10 have been reported so far. None of these reports pertain to living children with neurological abnormalities.
We report the case of a 14-month-old girl who was brought for treatment of unusual facies, growth retardation, and patent ductus arteriosus. Karyotype analysis revealed a 47, XX, + 10/46, XX pattern. MRI showed characteristics of Dandy–Walker syndrome and ventricular enlargement in the brain.
This case is distinguished by its extreme rarity and its potential for use as a reference case of this condition in clinical settings.
KeywordsMosaicism trisomy 10 Nervous system Dandy–Walker syndrome Patent ductus arteriosus
Trisomy 10 is very rarely diagnosed in live-born children; to our knowledge, there have only been 7 reported births of children with trisomy 10 . Of these 7 cases, only 1 prenatal case (reported in 2001) was adjudged to be a complete Trisomy 10; however, at 35 weeks + 4 days of gestation, the mother underwent preterm labor with resultant intrauterine fetal death; the fetus (birth weight 1020 g) was delivered vaginally . Case reports of the other 6 cases described live births with trisomy 10 mosaicism, with typical clinical features including feeding problems, growth retardation, failure to thrive, blepharophimosis, low-set ears, high-arched palate, retrognathia, long slender trunk, marked plantar/palmar furrows, cardiopathy, and early death. However, none of these case reports presented any evidence of manifestations in a live case or of complete trisomy 10 in all cells. Moreover, none of the previous cases had neurological involvement. In this report, we describe a case of mosaicism trisomy 10 that presented with neurological abnormalities.
Discussion and conclusions
The reported annual incidence of chromosomal abnormalities is approximately 100,000 in neonates in China; chromosomal abnormalities are detected in 0.3% of infants . However, given the high morbidity and mortality attributable to chromosomal disorders, early diagnosis and intervention are important to improve the quality of life of the affected children. An abnormal chromosome number is the most commonly encountered chromosomal disorder in clinical settings. Trisomy of chromosomes 13, 18, and 21, as well as that of X and Y are the most common chromosomal abnormalities, and account for more than 95% of chromosomal aneuploidy. However, live-born carriers of trisomy 10 are rare [2, 4]. The other reported instances of trisomy 10 are part of the leukemic cell lines or found in tumor specimens. Trisomy 10 has the distinction of being the sole cytogenetic abnormality detected in acute myeloid leukemia, with the incidence ranging from 0.2 to 0.5% ; however, it has rarely been observed in acute lymphoblastic leukemia or other cancers [6, 7, 8].
The following salient features distinguish this case from the previously reported cases: (1) Apart from trisomy 13, 18, and 21, and that of the X and Y chromosomes, trisomy of other chromosomes is rarely detected in live-born children, as these typically result in early abortion unless occurring as a mosaicism; a live-birth with trisomy 10 is especially rare. In the present case, the general condition of the child was good, and she had survived for a relatively long period. Moreover, comprehensive clinical data were available. (2) Trisomy 10, in this case, presented with neurological deficits, in addition to abnormalities such as retrognathia, cardiac defects, growth retardation, and other characteristic phenotypic changes. This phenomenon was not observed in the previously reported cases of trisomy 10. (3) The earlier reports are relatively superficial and lack in-depth characterization of abnormalities, particularly the neurological abnormalities. To our knowledge, life expectancy of children with trisomy 10 has not been confirmed. This is likely attributable to the paucity of long-term follow-up data. In the cases reported till date, survival ranged from 37 days to 5 years and 4 months . Given the child’s good general condition, there is scope for long-term follow-up. Furthermore, the chromosomal karyotype of her parents and brother are normal, which indicates that the trisomy 10 was caused by a genetic mutation. Given the rarity of trisomy 10, this case report is of much clinical value.
Trisomy 10 was first reported in 1973 . Most of the subsequent reports were those of a mutation in some cells in some patients with leukemia who presented with trisomy 10 . Other reports, largely based on prenatal diagnosis, identified fetuses with trisomy 10; however, most of these fetuses were aborted in early pregnancy . To our knowledge, only 6 live-births with trisomy 10 have been reported in the literature, and most of these were shown to be mosaicism with an euploid cell line. The first documented case of trisomy 10 without euploid cells in a live-born was reported in 1997 ; however, the cell karyotype was 47, XX, + 10/45, X. The present case is one of mosaicism trisomy 10. The case report illuminates peculiar clinical characteristics and functional derangement associated with trisomy 10, which may facilitate a better understanding of the disease and possibly help in early diagnosis.
To the best of our knowledge, this is the first reported case of mosaicism trisomy 10 with the Dandy–Walker syndrome. The Dandy–Walker syndrome is a rare congenital neurological disorder characterized by occlusion of the median foramen, lateral foraminal atresia, and cerebellar dysplasia, which may cause psychomotor retardation and increased intracranial pressure. Previous reports have shown that the Dandy–Walker syndrome is often associated with deranged development of cerebellum and the surrounding structures during the early embryonal period. Some patients had chromosomal abnormalities involving chromosomes 3, 9, 13, 18, and 21; however, the exact mechanism is not fully clarified . To our knowledge, this is the first reported case of trisomy 10 coexisting with the Dandy–Walker syndrome. The blood ammonia level of the present child was initially found to be slightly elevated. In order to rule out any inherited metabolic disease, we performed amino acid and carnitine spectrum analysis. However, the results were normal, and the blood ammonia level was spontaneously restored to normal. The significance of this case report is that it provides a comprehensive understanding of trisomy 10. Prenatal diagnosis, in such cases, could help minimize the economic and social burden imposed by this chromosomal aberration.
Not applicable. Include a statement on ethics approval and consent (even where the need for approval was waived).
The study protocol was approved by the Ethics Committee of the First Hospital, Jilin University.
The authors have no conflicts of interests in relation to the publication of this study or its findings.
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Data sharing not applicable to this article as no datasets were generated or analysed during the current study.
YG, YCM and YHJ wrote the initial draft, YNL revised it. YNL is the doctor, responsible for the diagnosis and treatment of the child. YG performed the chromosome detection. All authors participate in the collection of clinical materials. YG and YNL contributed equally to this work. All authors have read and approved the final manuscript.
Ethics approval and consent to participate
Written informed consent was obtained from the parents of the child for publication of this case report and the accompanying images. The study protocol was approved by the Ethics Committee of the First Hospital, Jilin University. The committee’s reference number is not appropriate.
Written informed consent of parents was obtained for genetic testing of the patient, her elder brother (both minors), and of the parents themselves.
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