DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Ausgabe 04 · Volume 04 · Dezember 2015 DOI: 10.1055/s-005-30588

Original Article

187
Khelifa, Hela Ben; Kammoun, Molka; Hannachi, Hanene; Soyah, Najla; Hammami, Saber; Elghezal, Hatem; Sanlaville, Damien; Saad, Ali; Mougou-Zerelli, Soumaya: Microarray Analysis of 8p23.1 Deletion in New Patients with Atypical Phenotypical Traits
194
Cangul, Hakan; Aydin, Banu K.; Bas, Firdevs: A Homozygous TPO Gene Duplication (c.1184_1187dup4) Causes Congenital Hypothyroidism in Three Siblings Born to a Consanguineous Family

Case Report

199
Manvelyan, Marine; Simonyan, Izabella; Hovhannisyan, Galina; Aroutiounian, Rouben; Hamid, Ahmed B.; Liehr, Thomas: A New Case of a Complex Small Supernumerary Marker Chromosome: A Der(9)t(7;9)(p22;q22) due to a Maternal Balanced Rearrangement
201
Atwal, Paldeep S.; Macmurdo, C.: A Case of Concurrent Miller-Dieker Syndrome (17p13.3 Deletion) and 22q11.2 Deletion Syndrome
204
Valentin, Leonardo I.; Perez, Luis; Masand, Prakash: Hepatoblastoma Associated with Trisomy 18
207
Atwal, Paldeep S.: A Case of Anterior Segment Dysgenesis with Iridolenticular Adhesions in Trisomy 18