TY  - JOUR
TT  - A case of prenatally diagnosed partial monosomy 13q syndrome
AU  - Yalçın, Serenat Eriş
AU  - Yavuz, And
AU  - Akkurt, Mehmet Özgür
AU  - Sezik, Mekin
PY  - 2017
DA  - March
Y2  - 2016
DO  - 10.17826/cutf.280492
JF  - Cukurova Medical Journal
JO  - Cukurova Med J
PB  - Çukurova Üniversitesi
WT  - DergiPark
SN  - 2602-3032
SP  - 189
EP  - 191
VL  - 42
IS  - 1
KW  - Deletion
KW  - monosomy
KW  - partial
KW  - syndrome
KW  - 13q
N2  - Partial deletion of the long arm of chromosome 13 is a rare chromosomal aberration which is related to mental retardation, growth restriction and various congenital malformations. Central nervous system, cardiac, genitourinary, skeletal malformations and craniofacial dysmorphism can be observed. Prenatal diagnosis is possible by karyotyping and early genetic sonogram. Prenatal diagnosis can be difficult in cases that are not accompanied by major malformations but mental retardation and developmental delay in the forefront. In this report we aimed to present a case diagnosed 13-q syndrome prenatally as a result of karyotyping done due to multiple abnormal ultrasound findings in 14 weeks of pregnancy.
CR  - 1.	Gutierrez J, Sepulveda W, Saez R, Carstens E, Sanchez J. Prenatal diagnosis of 13q- syndrome in a fetus with holoprosencephaly and thumb agenesis. Ultrasound Obstet Gynecol. 2001;17:166-8.
CR  - 2.	Manolakos E, Peitsidis P, Garas A, Vetro A, Eleftheriades M, Petersen MB et al. First trimester diagnosis of 13q-syndrome associated with increased fetal nuchal translucency thickness. Clinical findings and systematic review. Clin Exp Obstet Gynecol. 2012;39:118-21.
CR  - 3.	Garcia-Rodriguez E, Garcia-Garcia E, Perez-Sanchez A, Pavon-Delgado A. A New observation of 13q deletion syndrome: severe undescribed  features. Genet Couns. 2015;26:213-7.
CR  - 4.	Widschwendter A, Riha K, Duba HC, Kreczy A, Marth C, Schwärzler P. Prenatal diagnosis of de novo mosaic deletion 13q associated with multiple abnormalities. Ultrasound Obstet Gynecol. 2002;19:396-9.
UR  - https://doi.org/10.17826/cutf.280492
L1  - https://dergipark.org.tr/tr/download/article-file/261963
ER  -