Case Reports in Genetics

Meningocele in a Congolese Female with Beckwith-Wiedemann Phenotype

A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation

Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies

A Case of Acute Myeloid Leukemia with a Previously Unreported Translocation (14; 15) (q32; q13)

Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13

Alsin Related Disorders: Literature Review and Case Study with Novel Mutations

Preaxial Polydactyly of the Foot: Variable Expression of Trisomy 13 in a Case from Central Africa

Pheochromocytoma in a Twelve-Year-Old Girl with SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome

Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease

Concomitant Alpha- and Gamma-Sarcoglycan Deficiencies in a Turkish Boy with a Novel Deletion in the Alpha-Sarcoglycan Gene

Complex Variant of Philadelphia Translocation Involving Chromosomes 9, 12, and 22 in a Case with Chronic Myeloid Leukaemia

Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features

Intrauterine Growth Retardation Fetus with Trisomy 16 Mosaicism

A Rare, Recurrent, De Novo 14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual Disability

A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker

Case Reports in Genetics

Table of Contents

Table of Contents: 2014

Meningocele in a Congolese Female with Beckwith-Wiedemann Phenotype

A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation

Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies

A Case of Acute Myeloid Leukemia with a Previously Unreported Translocation (14; 15) (q32; q13)

Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13

Alsin Related Disorders: Literature Review and Case Study with Novel Mutations

Preaxial Polydactyly of the Foot: Variable Expression of Trisomy 13 in a Case from Central Africa

Pheochromocytoma in a Twelve-Year-Old Girl with SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome

Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease

Concomitant Alpha- and Gamma-Sarcoglycan Deficiencies in a Turkish Boy with a Novel Deletion in the Alpha-Sarcoglycan Gene

Complex Variant of Philadelphia Translocation Involving Chromosomes 9, 12, and 22 in a Case with Chronic Myeloid Leukaemia

Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features

Intrauterine Growth Retardation Fetus with Trisomy 16 Mosaicism

A Rare, Recurrent, De Novo 14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual Disability

A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker