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