Proximal Deletion of 6q Overlapping with Toriello-Carey Facial Phenotype: Prenatal Findings, Clinical Course, Differential Diagnosis, and Review (original) (raw)

Paternal deletion 6q24.3: A new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance

Melissa Carter

American Journal of Medical Genetics Part A, 2008

View PDFchevron_right

Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array CGH

Philip Cotter, M. Gilats, Mathew Moore

Clinical Genetics, 2007

View PDFchevron_right

Three cases with de novo 6q imbalance and variable prenatal phenotype

Irene Cetin

American Journal of Medical Genetics Part A, 2005

View PDFchevron_right

Monosomy 6q: report on four new cases

Annick Toutain

Clinical Genetics, 2008

View PDFchevron_right

Further delineation of the Toriello-Carey syndrome: A report of two siblings

Lili Mikecin, Ingeborg Barisic

American Journal of Medical Genetics, 2003

View PDFchevron_right

Mechanism and Genotype-Phenotype Correlation of Two Proximal 6q Deletions Characterized Using mBAND, FISH, Array CGH, and DNA Sequencing

Zuzana Zemanova

Cytogenetic and Genome Research, 2012

View PDFchevron_right

Interstitial deletions in the proximal regions of 6q: 12 original cases and a literature review

Yuiko Hasegawa

Intractable & Rare Diseases Research

View PDFchevron_right

Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases

Antonietta Coppola

American Journal of Medical Genetics Part A, 2006

View PDFchevron_right

A Child with 5q Deletion and Accompanying Chiari 1 Malformation

Emine çiçek

The Indian Journal of Pediatrics, 2020

View PDFchevron_right

Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay

Giampaolo Garani

Molecular Syndromology

View PDFchevron_right

Chromosome 6q deletion: Report of a new case and review of the literature

Ana Martinez-Barreiro

Genetics and Molecular Biology, 1998

View PDFchevron_right

Deletion of chromosome region 18q21.1 ? 18q21.3 in a patient without clinical features of the 18q- phenotype

Chris van Uum, John Engelen

American Journal of Medical Genetics, 2003

View PDFchevron_right

Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2

Eli Hatchwell

Clinical Genetics, 2009

View PDFchevron_right

Toriello-Carey syndrome: Delineation and review

Helga Toriello, Mark Lubinsky

American Journal of Medical Genetics, 2003

View PDFchevron_right

Description of a child with a 6q14.1-q16.1 interstitial deletion: A very rare entity with airway manifestations

Catarina Duarte

International journal of pediatric otorhinolaryngology, 2016

View PDFchevron_right

Dental and dentofacial problems in a female child with Toriello-Carey ­syndrome: changes in 3 years

Sevi Burcak Cehreli

Special Care in Dentistry, 2016

View PDFchevron_right

De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report

Muna Al Dhaibani

BMC Medical Genetics

View PDFchevron_right

Delineation of the proximal 3q microdeletion syndrome

Marwan Shinawi

American Journal of Medical Genetics Part A, 2008

View PDFchevron_right

Interstitial deletion of 6q without phenotypic effect

Karoly Szuhai

American Journal of Medical Genetics Part A, 2007

View PDFchevron_right

Interstitial 6q deletion: clinical and array CGH characterisation of a new patient

Ann Swillen

European Journal of Medical Genetics, 2005

View PDFchevron_right

A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity

Italia Loddo

American Journal of Medical Genetics Part A, 2015

View PDFchevron_right

Terminal deletion of chromosome 10q26 due to a paternal translocation {(7;10)(q36;q26)}

Cleide Borovik

American Journal of Medical Genetics, 1991

View PDFchevron_right

De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature

Bruno Delobel

European Journal of Medical Genetics, 2012

View PDFchevron_right

Genotype–phenotype correlation in interstitial 6q deletions: a report of 12 new cases

Jill Rosenfeld

neurogenetics, 2012

View PDFchevron_right

18q Deletion Syndrome – A Case Report

Syed Azad

Journal of Medical Science And clinical Research, 2016

View PDFchevron_right

A unique presentation of 22q13 deletion syndrome

Dima El-Khechen

Clinical Dysmorphology, 2011

View PDFchevron_right

Unbalanced translocation 6p/16q (partial monosomy 6p and trisomy 16q): prenatal diagnosis and cytogenetics

Danuta Galetzka

European Journal of Obstetrics & Gynecology and Reproductive Biology, 2010

View PDFchevron_right

21 Mb deletion in chromosome band 13q22.2q32.1 associated with mild/moderate psychomotor retardation, growth hormone insufficiency, short neck, micrognathia, hypotonia, dysplastic ears and other dysmorphic features

Carolina Sismani

European Journal of Medical Genetics, 2011

View PDFchevron_right