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A very rare partial trisomy syndrome: De novo duplication of 16q12.1q23.3 in a Turkish girl with developmental delay and facial dysmorphic features

A Türkyılmaz

A Türkyılmaz

Department of Medical Genetics, Erzurum Region Training and Research Hospital, Department of Medical GeneticsErzurum, Turkey
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Türkyılmaz, A
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O Yaralı

O Yaralı

Department of Medical Genetics, Erzurum Region Training and Research Hospital, Department of Medical GeneticsErzurum, Turkey
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Yaralı, O
  
26 ago 2020
A very rare partial trisomy syndrome: De novo duplication of 16q12.1q23.3 in a Turkish girl with developmental delay and facial dysmorphic features's Cover Image
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Categoría del artículo: Case Report
Publicado en línea: 26 ago 2020
Páginas: 103 - 108
DOI: https://doi.org/10.2478/bjmg-2020-0009
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© 2020 Türkyılmaz A, Yaralı O, published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Figure 1

The patient’s pictures at the age of 8 months. (written informed consent was obtained from the patient’s parents for publication of proband’s)
The patient’s pictures at the age of 8 months. (written informed consent was obtained from the patient’s parents for publication of proband’s)

Figure 2

The patient’s karyotype: 46,XX,add(16)(q24).
The patient’s karyotype: 46,XX,add(16)(q24).

Figure 3

Result of 315k Affymetrix CyctoScan Optima array of chromosome 16. Enlargement of aCGH results on chromosome 16 show gain of 16ql2.1q23.3 corresponding to 29.8 Mb of DNA. X-axis corresponds to the genomic position in megabases of DNA and Y-axis show the log 2 ratio of signal intensity.
Result of 315k Affymetrix CyctoScan Optima array of chromosome 16. Enlargement of aCGH results on chromosome 16 show gain of 16ql2.1q23.3 corresponding to 29.8 Mb of DNA. X-axis corresponds to the genomic position in megabases of DNA and Y-axis show the log 2 ratio of signal intensity.

Clinical features of previously reported pure partial trisomy 16q cases in the literature and in our patient_

Partial 16q trisomy regionPrx. D. 16q11.1-q13Prx. D. 16q11.2-q12.2Prx. D. 16q11.2-q12.1Prx. D. 16q11.2-q13Prx.D. 16q 12.1-q13Prx-Inter. D. 16q11.2-q22.1Prx-Inter. D. 16q11.2-q22.3Prx-Inter. D. 16q12.1-q21Prx-Inter. D. 16q13-q22.3Prx-Inter. D. 16q12.1-q22.1Inter-Dis. D. 16q22.1-q23.1Inter-Dis. D. 16q13-q24Prx-Dis. D. 16q12.1-q23.3
Methodology for genetic analysisConv. Cyto./ FISHConv. Cyto./ FISHConv. Cyto./ FISHConv. Cyto./ FISHConv. Cyto./ FISHSNP-aCHG (45,086,927- 71,261,259) 26.17 MbOligonu-cleotide aCGH 22.5 MbOligonucleo-tide aCGH (50,843,158-60,770,795) 9.92 MbConv. Cyto.aCGH 19.8 MbConv. Cyto./ FISHConv. Cyto.aCGH (52,459,169- 82,285,105) 29.8 Mb
References[5][6][6][6][7][1][8][2][9][3][10][11]this study
GenderFMM;M;M;MM;M;FMFFFFFMFF
Age (years)355.3;3;32;329.5;5;39NR253.52671000
Growth retardation[–][–]NR2/3NR[–][–][–][+][+][+]NR[+]
Intellectual disability[+][+]3/23/3RN[+][+][+][+][+][+]NR[+]
Micro-cephaly[–]NRNR[–]NR[–][+][–][–][–][–]NR[+]
Behavioral problems[+][+]NR2/3NRNR[+][+][+]NR[+]NRNR
Epilepsy[-]NRNRNRNR[–][–][–]NR[+][+]NR[–]
Speech delay[+][+]2/42/3NR[+][–][+][+]NR[+]NR[+]
Obesity[-][+]NR3/3NR[–][+][+]NRNRNRNR[–]
Dysmorphic features[+][+]NR[–]NR[+][+][+][+][+]NR[+][+]
Ear anomalies[+]NRNRNRNR[+]NR[+][–][–][+]NR[+]
Eye anomalies[-][+]NR2/3NR[+][+][+][–][+][–]NR[+]
Skeletal anomalies[+][+]NR3/3NR[+][–][+][+]NR[+][+][–]
Heart defects[-][+][–][–]NR[+][–][–]NR[–][–][+][–]
Urogenital anomalies[-]NRNRNRNR[–][–][–]NR[–][–][+][–]
CNV anomalies[-]NRNRNRNR[–][–][–]NR[+][+]NR[–]
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Medicina, Ciencias médicas básicas, Ciencias médicas básicas, otros
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