Case Reports in Genetics - oalib

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Case Reports in Genetics

ISSN Print: 2090-6544

ISSN Online:

主页: http://www.hindawi.com/journals/crig/

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

Meagan Smith,Kimberly M. Lewis,Alexandrea Holmes,Jeannie Visootsak

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

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

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

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

Warfarin Dosing in a Patient with CYP2C933 and VKORC1-1639 AA Genotypes

Mark Johnson,Craig Richard,Renee Bogdan,Robert Kidd

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

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

Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy

Shaochun Bai,Anthony Lozada,Marilyn C. Jones,Harry C. Dietz,Melissa Dempsey,Soma Das

An Interstitial Deletion at 10q26.2q26.3

Ivan Y. Iourov,Svetlana G. Vorsanova,Oxana S. Kurinnaia,Yuri B. Yurov

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

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

Florentia Fostira,Nikolaos Tsoukalas,Irene Konstantopoulou,Vassilios Georgoulias,Charalambos Christophyllakis,Drakoulis Yannoukakos

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

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

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

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

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

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

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

Sara Domingues,Lara Isidoro,Dalila Rocha,Jorge Sales Marques

Sporadic Fibrodysplasia Ossificans Progressiva in an Egyptian Infant with c.617G > A Mutation in ACVR1 Gene: A Case Report and Review of Literature

Mohammad Al-Haggar,Nermin Ahmad,Sohier Yahia,Amany Shams

Duplication of 17q11.2 and Features of Albright Hereditary Osteodystrophy Secondary to Methylation Defects within the GNAS Cluster: Coincidence or Causal?

M. White,J. Conroy,H. Bullman,M. Lever

Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism

Jonathan Lévy,Jean-Marie Jouannic,Julien Saada,Ferdinand Dhombres

Detection of t(14;16)(q32;q22) and Monosomy 13 by FISH Analysis in a Patient with Multiple Myeloma Associated with Sj gren’s Syndrome: The First Case Report from India

Rupesh R. Sanap,Arundhati S. Athalye,Prochi F. Madon,Boman N. Dhabhar

An Interstitial 20q11.21 Microdeletion Causing Mild Intellectual Disability and Facial Dysmorphisms

Ivan Y. Iourov,Svetlana G. Vorsanova,Oxana S. Kurinnaia,Yuri B. Yurov

A Case of Premature Ovarian Failure in a 33-Year-Old Woman

Emma Colao,Teresa Granata,Marco F. M. Vismara,Francesco Bombardiere

A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome

M. A. Ramirez-Garcia,O. F. Chacon-Camacho,C. Leyva-Hernandez,A. Cardenas-Conejo

First Trimester Diagnosis of Holoprosencephaly Secondary to a Ring Chromosome 7

Lindsay B. Henderson,Virginia L. Corson,Daniel O. Saul,Cynthia Anderson

A New Case of dic(1;15)(p11;p11) in AML M1: Apropos of a Case and a Review of the Literature

Deniz G？ren ？ahin,Beyhan Durak,Eren Gündüz,Sevilhan Artan

MURCS Association with Partial Duplication of the Distal Long Chromosome 5 and Unilateral Ovarian Agenesis

Anna Dabkowska-Huc,Piotr Skalba,Antoni Pyrkosz

Diagnosis of Bardet-Biedl Syndrome in Consecutive Pregnancies Affected with Echogenic Kidneys and Polydactyly in a Consanguineous Couple

Tieneka M. Baker,Erica L. Sturm,Clesson E. Turner,Scott M. Petersen

Duplication of 17q11.2 and Features of Albright Hereditary Osteodystrophy Secondary to Methylation Defects within the GNAS Cluster: Coincidence or Causal?

M. White,J. Conroy,H. Bullman,M. Lever,E. Daly,D. R. Betts,D. Cody,John A. Crolla,S. A. Lynch

Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism

Jonathan Lévy,Jean-Marie Jouannic,Julien Saada,Ferdinand Dhombres,Jean-Pierre Siffroi,Marie-France Portno？

Delineation of 2q32q35 Deletion Phenotypes: Two Apparent “Proximal” and “Distal” Syndromes

Adrian Mc Cormack,Juliet Taylor,Nerine Gregersen,Alice M. George,Donald R. Love

Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes

Francesca Malvestiti,Francesco Benedicenti,Simona De Toffol,Sara Chinetti,Adelheid H？ller,Beatrice Grimi,Gertrud Fichtel,Monica Braghetto,Cristina Agrati,Eleonora Bonaparte,Federico Maggi,Giuseppe Simoni,Francesca Romana Grati

Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 Gene

Catarina Dias,Lara Isidoro,Mafalda Santos,Helena Santos,Jorge Sales Marques

Targeted Next-Generation Resequencing of Gene Identifies Novel Multiple Variants Pattern in Severe Hereditary Factor V Deficiency

Piotr K. Janicki,Sonia Vaida,Hamid A. B. AL-Mondhiry

Fetoplacental Discrepancy with Normal Karyotype in Amniotic Fluid and Two Different Cell Lines in Placenta

Veronica Ortega,Christina Mendiola,Eric Williamson,Kenneth Higby,Gopalrao V. N. Velagaleti

Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital Cataracts

D. Wong,S. M. Johnson,D. Young,L. Iwamoto,S. Sood,T. P. Slavin

Bilateral Radial Ulnar Synostosis and Vertebral Anomalies in a Child with a De Novo 16p13.3 Interstitial Deletion

Allison Tam,Kit Shan Lee,Sansan Lee,William Burkhalter,Lucio U. Pascua,Thomas P. Slavin

Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient

Melisa Taboas,Cecilia Fernández,Susana Belli,Noemi Buzzalino,Liliana Alba,Liliana Dain

Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations

Nirmala D. Sirisena,U. Kalpani S. Wijetunge,Ramya de Silva,Vajira H. W. Dissanayake

Prenatal Diagnosis of Fetal Peters’ Plus Syndrome: A Case Report

Neerja Gupta,Anita Kaul,Madhulika Kabra

Idiopathic Central Precocious Puberty Associated with 11？Mb De Novo Distal Deletion of the Chromosome 9 Short Arm

Mariangela Cisternino,Erika Della Mina,Laura Losa,Alexandra Madè,Giulia Rossetti,Lorenzo Andrea Bassi,Giovanni Pieri,Baran Bayindir,Jole Messa,Orsetta Zuffardi,Roberto Ciccone

A Male with Cooccurrence of Down Syndrome and Fragile X Syndrome

Tovi Anderson,Allison Buterbaugh,Kaitlin Love,Jeannie Visootsak

Persistent Mosaicism for 12p Duplication/Triplication Chromosome Structural Abnormality in Peripheral Blood

Amy L. Shackelford,Laura K. Conlin,Marybeth Hummel,Nancy B. Spinner,Sharon L. Wenger

Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13)(q26.2;p11.2): Further Delineation of 3q Duplication Syndrome

M. Abreu-González,C. García-Delgado,A. Cervantes,A. Aparicio-Onofre,R. Guevara-Yá？ez,R. Sánchez-Urbina,M. P. Gallegos-Arreola,A. Luna-Angulo,F. J. Estrada,V. F. Morán-Barroso

A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome

M. A. Ramirez-Garcia,O. F. Chacon-Camacho,C. Leyva-Hernandez,A. Cardenas-Conejo,J. C. Zenteno

MURCS Association with Partial Duplication of the Distal Long Chromosome 5 and Unilateral Ovarian Agenesis

Anna Dabkowska-Huc,Piotr Skalba,Antoni Pyrkosz

An Interstitial 20q11.21 Microdeletion Causing Mild Intellectual Disability and Facial Dysmorphisms

Ivan Y. Iourov,Svetlana G. Vorsanova,Oxana S. Kurinnaia,Yuri B. Yurov

A Case of Premature Ovarian Failure in a 33-Year-Old Woman

Emma Colao,Teresa Granata,Marco F. M. Vismara,Francesco Bombardiere,Donatella Nocera,Elisa Luciano,Nicola Perrotti,Paola Malatesta

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