18p Deletion Syndrome Originating from Rare Unbalanced Whole-Arm Translocation between Chromosomes 13 and 18: A Case Report and Literature Review
Abstract
1. Introduction
2. Case Description
3. Discussion
4. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Variables | Case 1 | Case 2 | Case 3 | Case 4 | Our Case |
---|---|---|---|---|---|
Age at diagnosis | 27 years | 22 years | 8 years | 1.5 years | 16 years |
Sex | Male | Male | Female | Male | Male |
Cytogenetic methodology | Karyotyping | Karyotyping, FISH | Karyotyping | Karyotyping | Karyotyping, aCGH |
Karyotype | 45, XY, −13, 18, +t(13;18) (13qter→cen→18qter) | 45, XY, der(13;18) (q10;q10) | 45, XX, t(13p;18p) | 45, XY, der(13;18) (q10;q10) | 45, XY, der(13;18) (q10;q10) |
Inheritance | de novo | de novo | NA | NA | de novo |
Brain imaging | NA | NA | Small foci in frontal and parietal region a | Normal | Normal |
Facial dysmorphism | Posteriorly rotated ears, short neck, dental caries, café-au-lait spot | Triangular broad face, large sloping forehead, epicanthal folds, long and broad nose, large low-set ears, short neck, alopecia, disarrayed teeth, dental caries | Dolichocephaly, hypertelorism, flat nasal bridge, high arched palate, prominent forehead | Brachycephaly, hypertelorism, protruding eyes, hypodontia | Round face, hypertelorism, flat and long nose, short neck |
Low birth weight | (-) | (+), 1300 g | (+), 2250 g | NA | (-) |
Short stature | (+) | (+) | (+) | (+) | (+) |
Language disorder | (+) | (+) | (+) | (+) | (+) |
DD/ID b | Borderline | Moderate | Mild | Global DD c | Mild |
Behavioral features | Impulse control disorder | Intermittent explosive disorder | (-) | NA | (-) |
Neurological features | (-) | (-) | Seizures | Seizures | Seizures, ataxic-like movement, dysarthria |
Ophthalmologic features | Strabismus | Strabismus, ptosis, nystagmus | Strabismus, microcornea | Ptosis | Strabismus, ptosis, nystagmus, pseudopapilledema |
Cardiac features | NA | NA | NA | Patent ductus arteriosus, pulmonary atresia, ventricular septal defect | (-) |
Endocrinological features | (-) | Acquired hypothyroidism at 40 s | (-) | NA | (-) |
Skeletal features | Short left 4th metacarpal bone | Mild kyphosis, pectus carinatum | (-) | NA | 8th rib cage deformity, spondylolisthesis of L5 on S1 |
Other features | Cutaneous basal cell carcinoma (right arm) | (-) | Everted umbilicus, gall bladder calculi | (-) | Morbid obesity, micropenis |
References (year) | Moedjono SJ et al. [5] 1979 | de Ravel TJ et al. [6] 2005 | Nema et al. [7] 2016 | Safavi et al. [8] 2019 |
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Choi, J.Y.; Moon, J.U.; Yoon, D.H.; Yim, J.; Kim, M.; Jung, M.H. 18p Deletion Syndrome Originating from Rare Unbalanced Whole-Arm Translocation between Chromosomes 13 and 18: A Case Report and Literature Review. Children 2022, 9, 987. https://doi.org/10.3390/children9070987
Choi JY, Moon JU, Yoon DH, Yim J, Kim M, Jung MH. 18p Deletion Syndrome Originating from Rare Unbalanced Whole-Arm Translocation between Chromosomes 13 and 18: A Case Report and Literature Review. Children. 2022; 9(7):987. https://doi.org/10.3390/children9070987
Chicago/Turabian StyleChoi, Ji Young, Ja Un Moon, Da Hye Yoon, Jisook Yim, Myungshin Kim, and Min Ho Jung. 2022. "18p Deletion Syndrome Originating from Rare Unbalanced Whole-Arm Translocation between Chromosomes 13 and 18: A Case Report and Literature Review" Children 9, no. 7: 987. https://doi.org/10.3390/children9070987
APA StyleChoi, J. Y., Moon, J. U., Yoon, D. H., Yim, J., Kim, M., & Jung, M. H. (2022). 18p Deletion Syndrome Originating from Rare Unbalanced Whole-Arm Translocation between Chromosomes 13 and 18: A Case Report and Literature Review. Children, 9(7), 987. https://doi.org/10.3390/children9070987