Case Reports in Genetics

Sickle Retinopathy in a Person with Hemoglobin S/New York Disease

Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3)

Gain of Chromosome 4qter and Loss of 5pter: An Unusual Case with Features of Cri du Chat Syndrome

Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation

Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient

Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports

Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14

Molecular Cytogenetic Characterization of a Non-Robertsonian Dicentric Chromosome 14;19 Identified in a Girl with Short Stature and Amenorrhea

Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family

Prenatal Diagnosis and Postnatal Followup of Partial Trisomy 13q and Partial Monosomy 10p: A Case Report and Review of the Literature

Prenatal Diagnosis of Cystic Hygroma related to a Deletion of 16q24.1 with Haploinsufficiency of FOXF1 and FOXC2 Genes

Two Portuguese Cochlear Implanted Dizygotic Twins: A Case Report

Trisomy 11 as an Additional Chromosome Alteration in a Child with Acute Promyelocytic Leukemia with Poor Prognosis

Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay

Autism Spectrum Disorder in a Girl with a De Novo X;19 Balanced Translocation

Case Reports in Genetics

Table of Contents

Table of Contents: 2012

Sickle Retinopathy in a Person with Hemoglobin S/New York Disease

Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3)

Gain of Chromosome 4qter and Loss of 5pter: An Unusual Case with Features of Cri du Chat Syndrome

Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation

Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient

Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports

Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14

Molecular Cytogenetic Characterization of a Non-Robertsonian Dicentric Chromosome 14;19 Identified in a Girl with Short Stature and Amenorrhea

Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family

Prenatal Diagnosis and Postnatal Followup of Partial Trisomy 13q and Partial Monosomy 10p: A Case Report and Review of the Literature

Prenatal Diagnosis of Cystic Hygroma related to a Deletion of 16q24.1 with Haploinsufficiency of FOXF1 and FOXC2 Genes

Two Portuguese Cochlear Implanted Dizygotic Twins: A Case Report

Trisomy 11 as an Additional Chromosome Alteration in a Child with Acute Promyelocytic Leukemia with Poor Prognosis

Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay

Autism Spectrum Disorder in a Girl with a De Novo X;19 Balanced Translocation