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Genetic Counseling

Genetic Counseling is a scientific journal, published since 1990 in English. The journal's country of origin is Switzerland and its primary focus areas are genetics and medical ethics.
Details
Abbr. Genet Couns
Start 1990
End 2016
Frequency Four no. a year
p-ISSN 1015-8146
Country Switzerland
Language English
Specialties Genetics
Medical Ethics
Recent Articles
1.
PRENATAL DIAGNOSIS OF RHIZOMELIC CHONDRODYSPLASIA PUNCTATA
Erdogdu E, Dilek N, Arisoy R, Tahaoglu A, Karacor T, Andan C
Genet Couns . 2018 Sep; 27(4):533-535. PMID: 30226976
No abstract available.
2.
DID A del(2)(p11.2p13),inv(2)(p11.2q31) REARRANGEMENT RESULT FROM A GERMLINE RECIPROCAL INTRACHROMOSOME INSERTION?
Rivera H, Dominguez M
Genet Couns . 2018 Sep; 27(4):529-531. PMID: 30226975
No abstract available.
3.
A NOVEL MUTATION K447M (P.LYS447MET, C.1340 A>T) IDENTIFIED IN EXON 4 OF THE MEFV GENE
Eroz R, Dogan M, Kocabay K
Genet Couns . 2018 Sep; 27(4):525-528. PMID: 30226974
No abstract available.
4.
TWO DIFFERENT MUTATIONS OF GL13 GENE IN TWO DIFFERENT SYNDROMES
Candan S, Yesil G, Sen Dalkiran E, Eser B
Genet Couns . 2018 Sep; 27(4):519-524. PMID: 30226973
Polydactyly is among comnion extremity abnormalities. Mutations of GLI3 gene have been reported commonly in Greig Cephalopolysyndactyly Syndrome (GCPS) and Pallister-Hall Syndrome (PHS). We have determined two different mutations of...
5.
A THANATOPHORIC DYSPLASIA TYPE I CASE WITH A FGFR3 P.R248C MUTATION AND SURVIVAL BEYOND THE NEONATAL PERIOD
Sahin S, Ograg H, Aslan E, Akcan A, Turkmen M, Moosa S, et al.
Genet Couns . 2018 Sep; 27(4):513-517. PMID: 30226972
A Thanatophoric dysplasia, is a severe congenital anomaly which mostly causes stillbirth or death of the affected baby within hours due to respiratory insufficiency. The diagnosis of TD is typically...
6.
A NEONATE PRESENTING WITH GRACILE SYNDROME AND BJORNSTAD PHENOTYPE ASSOCIATED WITH BCS1L MUTATION
Akduman H, Eminoglu T, Okulu E, Erdeve O, Atasay B, Arsan S
Genet Couns . 2018 Sep; 27(4):509-512. PMID: 30226971
GRACILE Syndrome, is an autosomal recessive disease presenting with growth retardation, severe lactic acidosis, Fanconi type tubulopathy, cholestasis, iron overload and early death without any dysmorphological or neurological features. The...
7.
MICRODUPLICATION OF 17p[DUP(17)(12p11.2)]: REPORT OF A NEONATE WITH A SPINA BIFIDA AND CARDIAC ANOMALIES AND A LITERATURE REVIEW
Puvabanditsin S, Gueye-Ndiaye S, Puthenpura V, Gengel N, Tam V, Mehta R
Genet Couns . 2018 Sep; 27(4):503-507. PMID: 30226970
Duplication 17pll.2 syndrome is a recent recognized syndrome with multiple congenital anomalies and mental retardation. Most patients with duplication 17p11.2 syndrome harbor a common 3.7 Mb duplication (17p.11.2 duplication syndrome)...
8.
BARTH SYNDROME IN MALE AND FEMALE SIBLINGS CAUSED BY A NOVEL MUTATION IN THE TAZ GENE
Avdjieva-Tzavella D, Todorova A, Kathom H M , Ivanova M, Yordanova I, Todorov T, et al.
Genet Couns . 2018 Sep; 27(4):495-501. PMID: 30226969
Barth syndrome (BTHS) is an X-linked recessive disease caused by mutations in tafazzin gene (TAZ) which lead to cardiolipin deficiency and mitochondrial dysfunction. Male patients have variable clinical findings, including...
9.
CLINICAL EFFECT OF A MUTATION (p.Glu322Asp, c.966 G>T) IN PANK2 GENE IN A FAMILY WITH ATYPICAL PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION
Ayas Z, Karkucak M, Ocal R, Yakut T
Genet Couns . 2018 Sep; 27(4):489-494. PMID: 30226968
Pantothenate-kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive disorder caused by mutations in the pantothenate kinase 2 (PANK2) gene. Many different mutations in the PANK2 gene have been detected in...
10.
A CASE OF CONFINED PLACENTAL MOSAICISM WITH TRISOMY 15 ASSOCIATED WITH TURNER SYNDROME
Ekici C, Sahin Y, Yaykasli K, Melekoglu R, Sahin N, Yuksel S
Genet Couns . 2018 Sep; 27(4):485-488. PMID: 30226967
We here present a rare case of a Turner syndrome with mosaic trisomy 15 identified on chorionic villous sampling (CVS). Although there are several reports in the literature indicating confined...