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Prenatal diagnosis of a de novo partial trisomy 6q and partial monosomy 18p associated with cephalocele: A case report

A Karaman

A Karaman

Genetics Diagnosis Center, University of Health Sciences, Zeynep Kamil Women and Children Training and Research HospitalIstanbul, Turkey
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Karaman, A
, 
B Karaman

B Karaman

Department of Medical Genetics, Istanbul University, Istanbul Faculty of MedicineIstanbul, Turkey
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Karaman, B
, 
A Çetinkaya

A Çetinkaya

  • Genetics Diagnosis Center, University of Health Sciences, Zeynep Kamil Women and Children Training and Research HospitalIstanbul, Turkey
  • Department of Medical Genetics, Hacetepe University, Faculty of MedicineAnkara, Turkey
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Çetinkaya, A
, 
S Karaman

S Karaman

Department of Anesthesia and Reanimation, University of Health Sciences Ümraniye Training and Research HospitalIstanbul, Turkey
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Karaman, S
 e 
O Demirci

O Demirci

Perinatalogy Unit, University of Health Sciences Zeynep Kamil Women and Children Training and Research HospitalIstanbul, Turkey
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Demirci, O
  
26 ago 2020
Prenatal diagnosis of a de novo partial trisomy 6q and partial monosomy 18p associated with cephalocele: A case report's Cover Image
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Categoria dell'articolo: Case Report
Pubblicato online: 26 ago 2020
Pagine: 99 - 102
DOI: https://doi.org/10.2478/bjmg-2020-0014
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© 2020 Karaman A, Karaman B, Çetinkaya A, Karaman S, Demirci O, published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Figure 1

Parietal cephalocele of the affacted individual.
Parietal cephalocele of the affacted individual.

Figure 2

The aCGH showing the loss of 18p11.32-p11.31 (A) and gain of 6q25-27 (B) resulting from the de novo unbalanced translocation in the affected individual.
The aCGH showing the loss of 18p11.32-p11.31 (A) and gain of 6q25-27 (B) resulting from the de novo unbalanced translocation in the affected individual.
Lingua:
Inglese
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2 volte all'anno
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Medicina, Scienze medicali di base, Scienze medicali di base, altro
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