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    2014
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Case Report
Open Access

Meningocele in a Congolese Female with Beckwith-Wiedemann Phenotype

Sébastien Mbuyi-Musanzayi,  Toni Lubala Kasole,  Aimé Lumaka,  Tony Kayembe Kitenge,  Leon Kabamba Ngombe,  Prosper Kalenga Muenze,  Prosper Lukusa Tshilobo,  François Tshilombo Katombe,  Célestin Banza Lubaba Nkulu,  Koenraad Devriendt, 
  • First Published: 28 December 2014
Case Report
Open Access

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

Giorgia Mandrile,  Eleonora Di Gregorio,  Alessandro Calcia,  Alessandro Brussino,  Enrico Grosso,  Elisa Savin,  Daniela Francesca Giachino,  Alfredo Brusco, 
  • First Published: 23 November 2014
Case Report
Open Access

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

Sun-Mi Cho,  Bo Young Hong,  Yoonjung Kim,  Sang Guk Lee,  Jin-Young Yang,  Juwon Kim,  Kyung-A Lee, 
  • First Published: 20 November 2014

Case Report
Open Access

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

Mohamad Khawandanah,  Bradley Gehrs,  Shibo Li,  Jennifer Holter Chakrabarty,  Mohamad Cherry, 
  • First Published: 11 November 2014
Case Report
Open Access

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

Javier Sánchez,  Ana Peciña,  Olga Alonso-Luengo,  Antonio González-Meneses,  Rocío Vázquez,  Guillermo Antiñolo,  Salud Borrego, 
  • First Published: 14 October 2014
Case Report
Open Access

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

Filipa Flor-de-Lima,  Mafalda Sampaio,  Nahid Nahavandi,  Susana Fernandes,  Miguel Leão, 
  • First Published: 14 September 2014
Case Report
Open Access

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

Sébastien Mbuyi-Musanzayi,  Aimé Lumaka,  Bienvenu Yogolelo Asani,  Toni Lubala Kasole,  Prosper Lukusa Tshilobo,  Prosper Kalenga Muenze,  François Tshilombo Katombe,  Koenraad Devriendt, 
  • First Published: 01 September 2014
Case Report
Open Access

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

Daryl Graham,  Megan Gooch,  Zhan Ye,  Edward Richer,  Aftab Chishti,  Elizabeth Reilly,  John D’Orazio, 
  • First Published: 19 August 2014
Case Report
Open Access

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

Pankaj Thakur,  Paul Speer,  Aleksandar Rajkovic, 
  • First Published: 13 July 2014
Case Report
Open Access

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

Gulden Diniz,  Hulya Tosun Yildirim,  Sarenur Gokben,  Gul Serdaroglu,  Filiz Hazan,  Kanay Yararbas,  Ajlan Tukun, 
  • First Published: 22 June 2014
Case Report
Open Access

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

F. Malvestiti,  C. Agrati,  S. Chinetti,  A. Di Meco,  S. Cirrincione,  M. Oggionni,  B. Grimi,  F. Maggi,  G. Simoni,  F. R. Grati, 
  • First Published: 18 June 2014
Case Report
Open Access

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

Jennifer L. Roberts,  Stephanie K. Gandomi,  Melissa Parra,  Ira Lu,  Chia-Ling Gau,  Majed Dasouki,  Merlin G. Butler, 
  • First Published: 02 June 2014
Case Report
Open Access

Intrauterine Growth Retardation Fetus with Trisomy 16 Mosaicism

Takol Chareonsirisuthigul,  Suchin Worawichawong,  Rachanee Parinayok,  Patama Promsonthi,  Budsaba Rerkamnuaychoke, 
  • First Published: 14 May 2014
Case Report
Open Access

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

Almira Zada,  Farmaditya E. P. Mundhofir,  Rolph Pfundt,  Nico Leijsten,  Willy Nillesen,  Sultana M. H. Faradz,  Nicole de Leeuw, 
  • First Published: 30 March 2014
Case Report
Open Access

A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker

Roberto L. P. Mazzaschi,  Juliet Taylor,  Stephen P. Robertson,  Donald R. Love,  Alice M. George, 
  • First Published: 17 March 2014
Case Report
Open Access

Neurofibromatosis Type 1: A Novel NF1 Mutation Associated with Mitochondrial Complex I Deficiency

Sara Domingues,  Lara Isidoro,  Dalila Rocha,  Jorge Sales Marques, 
  • First Published: 04 March 2014
Case Report
Open Access

Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm

Kristi K. Fitzgerald,  Abdul Majeed Bhat,  Katrina Conard,  James Hyland,  Christian Pizarro, 
  • First Published: 03 March 2014
Case Report
Open Access

Previously Unreported Chromosomal Aberrations of t(3;3)(q29;q23), t(4;11)(q21;q23), and t(11;18)(q10;q10) in a Patient with Accelerated Phase Ph+ CML

Cigdem Aydin,  Zafer Cetin,  Ozan Salim,  Orhan Kemal Yucel,  Levent Undar,  Sibel Berker Karauzum, 
  • First Published: 23 February 2014
Case Report
Open Access

Microduplication of 3p26.3 Implicated in Cognitive Development

Leah Te Weehi,  Raj Maikoo,  Adrian Mc Cormack,  Roberto Mazzaschi,  Fern Ashton,  Liangtao Zhang,  Alice M. George,  Donald R. Love, 
  • First Published: 13 February 2014
Case Report
Open Access

Congenital Arthrogryposis: An Extension of the 15q11.2 BP1-BP2 Microdeletion Syndrome?

K. M. Usrey,  C. A. Williams,  M. Dasouki,  L. C. Fairbrother,  M. G. Butler, 
  • First Published: 12 February 2014
Case Report
Open Access

A Paternally Inherited BRCA1 Mutation Associated with an Unusual Aggressive Clinical Phenotype

Florentia Fostira,  Nikolaos Tsoukalas,  Irene Konstantopoulou,  Vassilios Georgoulias,  Charalambos Christophyllakis,  Drakoulis Yannoukakos, 
  • First Published: 10 February 2014
Case Report
Open Access

Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4–11

Vassos Neocleous,  Panayiotis K. Yiallouros,  George A. Tanteles,  Constantina Costi,  Maria Moutafi,  Phivos Ioannou,  Philippos C. Patsalis,  Carolina Sismani,  Leonidas A. Phylactou, 
  • First Published: 06 February 2014
Case Report
Open Access

An Interstitial Deletion at 10q26.2q26.3

Ivan Y. Iourov,  Svetlana G. Vorsanova,  Oxana S. Kurinnaia,  Yuri B. Yurov, 
  • First Published: 06 February 2014
Case Report
Open Access

Monosomy 21 Seen in Live Born Is Unlikely to Represent True Monosomy 21: A Case Report and Review of the Literature

Trent Burgess,  Lilian Downie,  Mark D. Pertile,  David Francis,  Melissa Glass,  Sara Nouri,  Rosalynn Pszczola, 
  • First Published: 04 February 2014
Case Report
Open Access

A Case of False Negative NIPT for Down Syndrome-Lessons Learned

Meagan Smith,  Kimberly M. Lewis,  Alexandrea Holmes,  Jeannie Visootsak, 
  • First Published: 04 February 2014
Case Report
Open Access

A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic Features

Adrian Mc Cormack,  Juliet Taylor,  Leah Te Weehi,  Donald R. Love,  Alice M. George, 
  • First Published: 04 February 2014
Case Report
Open Access

Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy

Shaochun Bai,  Anthony Lozada,  Marilyn C. Jones,  Harry C. Dietz,  Melissa Dempsey,  Soma Das, 
  • First Published: 03 February 2014
Case Report
Open Access

An Active Isodicentric X Chromosome in a Case of Refractory Anaemia with Ring Sideroblasts Associated with Marked Thrombocytosis

Rosario M. Morales Camacho,  Javier Sanchez,  Irene Marcos Luque,  Ricardo Bernal,  Jose F Falantes,  Jose A Pérez-Simón, 
  • First Published: 30 January 2014
Case Report
Open Access

First Birth after Sperm Selection through Discontinuous Gradient Centrifugation and Artificial Insemination from a Chromosomal Translocation Carrier

Alexandre Rouen,  Capucine Hyon,  Richard Balet,  Nicole Joyé,  Nino Guy Cassuto,  Jean-Pierre Siffroi, 
  • First Published: 23 January 2014
Case Report
Open Access

Warfarin Dosing in a Patient with CYP2C9*3*3 and VKORC1-1639 AA Genotypes

Mark Johnson,  Craig Richard,  Renee Bogdan,  Robert Kidd, 
  • First Published: 22 January 2014
Case Report
Open Access

Rhabdomyolysis and Cardiomyopathy in a 20-Year-Old Patient with CPT II Deficiency

M. Vavlukis,  A. Eftimov,  P. Zafirovska,  E. Caparovska,  B. Pocesta,  S. Kedev,  A. J. Dimovski, 
  • First Published: 20 January 2014
Case Report
Open Access

Absence of Substantial Copy Number Differences in a Pair of Monozygotic Twins Discordant for Features of Autism Spectrum Disorder

Marina Laplana,  José Luis Royo,  Anton Aluja,  Ricard López,  Damiàn Heine-Sunyer,  Joan Fibla, 
  • First Published: 19 January 2014