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

Autor:	Karaman A, Karaman B, Çetinkaya A, Karaman S, Demirci O
Jazyk:	angličtina
Rok vydání:	2020
Předmět:	18p monosomy prenatal diagnosis 6q trisomy Genetics QH426-470
Zdroj:	Balkan Journal of Medical Genetics, Vol 23, Iss 1, Pp 99-102 (2020)
Druh dokumentu:	article
ISSN:	1311-0160
DOI:	10.2478/bjmg-2020-0014
Popis:	A 28-year-old woman underwent amniocentesis at 18 weeks’ gestation upon detection of increased fetal nuchal fold and parietal cephalocele on the second trimester ultrasound examination. Prenatal microarray showed a de novo unbalanced translocation resulting in a gain in 6q and loss in 18p. A female infant was delivered at 38 weeks’ gestation. At birth, cephalocele and webbed neck were noted as major dysmorphic features. The case presented here shows how a combination of different genetic studies is used to accurately elucidate a chromosomal anomaly in a prenatal setting.
Databáze:	Directory of Open Access Journals
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