• Issue
    2012
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Case Report
Open Access

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

Donovan Calder,  Maryse Etienne-Julan,  Marc Romana,  Naomi Watkins,  Jennifer M. Knight-Madden, 
  • First Published: 31 December 2012
Case Report
Open Access

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

Norma Elena de León Ojeda,  Michel Soriano-Torres,  Mercedes J. Cabrera,  Dunia Bárbara Benítez Ramos, 
  • First Published: 25 December 2012
Case Report
Open Access

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

Frenny Sheth,  Naresh Gohel,  Thomas Liehr,  Olakanmi Akinde,  Manisha Desai,  Olawaleye Adeteye,  Jayesh Sheth, 
  • First Published: 20 December 2012
Case Report
Open Access

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

Rose H. Mende,  David P. Drake,  Raimos M. Olomi,  Ben C. J. Hamel, 
  • First Published: 10 December 2012
Case Report
Open Access

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

Farmaditya E. P. Mundhofir,  Helger G. Yntema,  Ineke van der Burgt,  Ben C. J. Hamel,  Sultana M. H. Faradz,  Bregje W. M. van Bon, 
  • First Published: 01 December 2012
Case Report
Open Access

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

F. Sheth,  O. R. Akinde,  C. Datar,  O. V. Adeteye,  J. Sheth, 
  • First Published: 22 November 2012
Case Report
Open Access

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

Javier Sánchez,  Lutgardo García-Díaz,  David Chinchón,  Guillermo Antiñolo, 
  • First Published: 05 November 2012
Case Report
Open Access

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

Usha R. Dutta,  Vijaya Kumar Pidugu,  Ashwin Dalal, 
  • First Published: 05 November 2012
Case Report
Open Access

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

Jayesh J. Sheth,  Chitra M. Ankleshwaria,  Rajeshwari Pawar,  Frenny J. Sheth, 
  • First Published: 30 October 2012
Case Report
Open Access

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

Yuan Wei,  Xuefeng Gao,  Liying Yan,  Fang Xu,  Peining Li,  Yangyu Zhao, 
  • First Published: 23 October 2012
Case Report
Open Access

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

Matthew J. Garabedian,  Donna Wallerstein,  Nubia Medina,  James Byrne,  Robert J. Wallerstein, 
  • First Published: 28 August 2012
Case Report
Open Access

Two Portuguese Cochlear Implanted Dizygotic Twins: A Case Report

Joana Rita Chora,  Helena Simões-Teixeira,  Tiago Daniel Matos,  Jorge Humberto Martins,  Marisa Alves,  Raquel Ferreira,  Luís Silva,  Carlos Ribeiro,  Graça Fialho,  Helena Caria, 
  • First Published: 23 August 2012
Case Report
Open Access

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

Elenice Ferreira Bastos,  Lidiane Alice Silva,  Marcelo Coelho Ramos,  Glicínia Pimenta,  Paulo Ivo Cortez,  Stella Beatriz Gonçalves de Lucena,  Teresa de Souza Fernandez, 
  • First Published: 05 July 2012
Case Report
Open Access

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

Amel Al-Murrani,  Fern Ashton,  Salim Aftimos,  Alice M. George,  Donald R. Love, 
  • First Published: 22 May 2012
Case Report
Open Access

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

Marcelo Razera Baruffi,  Deise Helena de Souza,  Rosana Aparecida Bicudo da Silva,  Ester Silveira Ramos,  Danilo Moretti-Ferreira, 
  • First Published: 17 May 2012
Case Report
Open Access

Unique Case Reports Associated with Ovarian Failure: Necessity of Two Intact X Chromosomes

Lakshmi Rao Kandukuri,  Venkata Padmalatha,  Murthy Kanakavalli,  Raseswari Turlapati,  Mangalipally Swapna,  Metuku Vidyadhari,  Govindaraghavan Saranaya,  Kattera Himaja,  Mamata Deenadayal,  Bipin Kumar Sethi,  Prasun Deb,  Nalini Gupta,  Baidyanath Chakraborthy,  Pratibha Nallari,  Lalji Singh, 
  • First Published: 11 April 2012
Case Report
Open Access

Early Intervention Combined with Targeted Treatment Promotes Cognitive and Behavioral Improvements in Young Children with Fragile X Syndrome

Tri Indah Winarni,  Andrea Schneider,  Mariya Borodyanskara,  Randi J. Hagerman, 
  • First Published: 26 March 2012
Case Report
Open Access

Extra Copies of der(21)t(12;21) plus Deletion of ETV6 Gene due to dic(12;18) in B-Cell Precursor ALL with Poor Outcome

Marina Araújo Fonzar Hernandes,  Terezinha de Jesus Marques-Salles,  Hasmik Mkrtchyan,  Eliane Maria Soares-Ventura,  Edinalva Pereira Leite,  Maria Tereza Cartaxo Muniz,  Maria Teresa Marquim Nogueira Cornélio,  Thomas Liehr,  Neide Santos,  Maria Luiza Macedo Silva, 
  • First Published: 25 March 2012
Case Report
Open Access

Detection of Chromosome X;18 Breakpoints and Translocation of the Xq22.3;18q23 Regions Resulting in Variable Fertility Phenotypes

Attila Szvetko,  Nicole Martin,  Chris Joy,  Andrea Hayward,  Bob Watson,  Andrew Cary,  Stephen Withers, 
  • First Published: 08 February 2012