Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases
Abstract
:1. Introduction
2. Materials and Methods
2.1. Population Study
2.2. Molecular Analysis and Study Design
3. Results
3.1. UPD(20)mat Patients
3.1.1. Patient 1
3.1.2. Patient 2
3.1.3. Patient 3
4. Discussion
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Clinical Characteristics | Patient 1 | Patient 2 | Patient 3 | Previously Reported Cases (n = 21) |
---|---|---|---|---|
Sex | M | M | F | 11M/9F/1NA |
Maternal age at birth (years) | 44 | 42 | 40 | 38 (28–43) |
Gestational age (weeks + days) | 36 + 4 | 38 + 5 | 38 + 1 | 37 (32–40) |
Oligohydramnios | NA | None | None | 6/18 |
Birth length (cm | SDS) | 43 | −2.27 | 44 | −2.65 | 46 | −1.7 | – |
Birth weight (kg | SDS) | 1.51 | −3.12 | 2.23 | −2.38 | 2.48 | −1.79 | – |
Birth head circumference (cm | SDS) | 30 | −2.53 | 33.1 | −1.01 | 31.5 | −1.96 | – |
Age at clinical SRS suspicion (months) | 15 | 5.5 | 15 | – |
Evaluation length (cm | SDS) | 71.5 | −2.7 | 60 | −2.7 | 69.9 | –2.5 | – |
Evaluation weight (kg | SDS) | 6.7 | –4.9 | 4.15 | −5 | 6.52 | −4.9 | – |
UPD type | NA | UPhD | UPhD + UPiD | 5/21 UPiD; 4/21 UPhD; 10/21 mixed |
Methods | MS-MLPA + SNP-array | MS-MLPA + STRs | MS-MLPA + STRs | Various * |
NH-CSS 1 features: | ||||
SGA (birth weight and/or length ≤ –2 SDS) | + | + | – | 15/21 |
Relative macrocephaly at birth a | – | + | – | 4/10 |
Postnatal growth failure b | + # | +/–$ | + # | 18/21 # |
Protruding forehead c | + | + | + | 4/8 |
Body asymmetry d | + | – | – | 2/8 |
Feeding difficulties e and/or BMI ≤ –2 SDS (2ys) | + | + | + | 18/21 |
Other clinical manifestations: | ||||
Small and triangular face | + | + | + | 6/8 |
Micrognathia | + | + | – | 1/1 |
Hypotonia | + | – | + | 9/13 |
Developmental delay | – | – | – | 6/16 |
GH deficit | + | – | + | 2/21 |
Facial dysmorphism | Blue sclera, ear anomalies | Epicanthus, helix hypoplasia, short philtrum, thin lips | Short palpebral fissures | 11/21 |
Skeletal abnormalities | None | Fifth finger clinodactyly | None | 13/19 (5/6 clinodactyly) |
Genital anomalies | Cryptorchidism | None | Vaginal synechiae | 3/3 |
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Tannorella, P.; Minervino, D.; Guzzetti, S.; Vimercati, A.; Calzari, L.; Patti, G.; Maghnie, M.; Allegri, A.E.M.; Milani, D.; Scuvera, G.; et al. Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases. Genes 2021, 12, 588. https://doi.org/10.3390/genes12040588
Tannorella P, Minervino D, Guzzetti S, Vimercati A, Calzari L, Patti G, Maghnie M, Allegri AEM, Milani D, Scuvera G, et al. Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases. Genes. 2021; 12(4):588. https://doi.org/10.3390/genes12040588
Chicago/Turabian StyleTannorella, Pierpaola, Daniele Minervino, Sara Guzzetti, Alessandro Vimercati, Luciano Calzari, Giuseppa Patti, Mohamad Maghnie, Anna Elsa Maria Allegri, Donatella Milani, Giulietta Scuvera, and et al. 2021. "Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases" Genes 12, no. 4: 588. https://doi.org/10.3390/genes12040588
APA StyleTannorella, P., Minervino, D., Guzzetti, S., Vimercati, A., Calzari, L., Patti, G., Maghnie, M., Allegri, A. E. M., Milani, D., Scuvera, G., Mariani, M., Modena, P., Selicorni, A., Larizza, L., & Russo, S. (2021). Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases. Genes, 12(4), 588. https://doi.org/10.3390/genes12040588