A Chinese patient with Toriello–Carey syndrome and an interstitial deletion of 3q

No abstract is available for this paper.

• Publication year

  2017

• Venue

  American Journal of Medical Genetics. Part A

• Publication date

  2017-03-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1002/ajmg.a.38009PMID 27748028
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Female patient with autistic disorder, intellectual disability, and co‐morbid anxiety disorder: Expanding the phenotype associated with the recurrent 3q13.2–q13.31 microdeletion

  2015cited by this paper
• Adult expression of a 3q13.31 microdeletion

  2014cited by this paper
• The emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: a novel deletion syndrome on chromosome 3q13.31-22.1

  2014cited by this paper
• Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication.

  2013cited by this paper
• A rare 3q13.31 microdeletion including GAP43 and LSAMP genes

  2013cited by this paper
• A case of Toriello–Carey syndrome with severe congenital tracheal stenosis

  2013cited by this paper
• Recurrent HERV‐H‐Mediated 3q13.2–q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays

  2013cited by this paper
• Toriello‐Carey syndrome with a 6Mb interstitial deletion at 22q12 detected by array CGH

  2011cited by this paper
• A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

  2011cited by this paper
• Siblings with phenotypic overlap with Toriello–Carey syndrome and complex cytogenetic imbalances including 3q29 microduplication and 6p25 microdeletion: Review of the literature and additional evidence for genetic heterogeneity

  2010cited by this paper
• A de novo 1.9‐Mb interstitial deletion of 3q13.2q13.31 in a girl with dysmorphic features, muscle hypotonia, and developmental delay

  2009cited by this paper
• Delineation of the proximal 3q microdeletion syndrome

  2008cited by this paper
• Toriello‐Carey syndrome phenotype and chromosome anomalies

  2008cited by this paper
• Patient with novel interstitial deletion of chromosome 3q13.1q13.3 and agenesis of the corpus callosum

  2006cited by this paper
• OEIS complex with del(3)(q12.2q13.2)

  2005cited by this paper
• Toriello–Carey syndrome and unbalanced translocation t(8;18)(p12;q22)

  2004cited by this paper
• Toriello–Carey syndrome associated with respiratory failure and non‐mechanical ileus

  2003cited by this paper
• Further delineation of the Toriello‐Carey syndrome: A report of two siblings

  2003influential reference
• Toriello–Carey syndrome: Delineation and review

  2003cited by this paper
• Deletion of chromosome 3q proximal region gives rise to a variable phenotype

  1998cited by this paper
• Toriello-Carey syndrome: evidence for X-linked inheritance.

  1996cited by this paper
• A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum

  1994cited by this paper
• Boy with a chromosome del (3)(q12q23) and blepharophimosis syndrome.

  1992cited by this paper
• New case of Toriello-Carey syndrome.

  1992influential reference
• Corpus callosum agenesis, facial anomalies, Robin sequence, and other anomalies: a new autosomal recessive syndrome?

  1988cited by this paper
• A case of de novo interstitial deletion 3q.

  1987cited by this paper
• Deletion of the proximal long arm of chromosome 3 in an infant with features of Turner syndrome.

  1985cited by this paper
• Interstitial deletion of the long arm of chromosome 3.

  1983cited by this paper

• Fatal persistent pulmonary hypertension as part of 3q11.1-q21.3 deletion syndrome?

  2026cites this paper
• A novel 3q interstitial deletion including GATA2 and ZNF148: A case report

  2024cites this paper
• The 58th Case of Toriello-Carey Syndrome: The Association with Colpocephaly on Brain Magnetic Resonance Imaging and Computerized Tomography Scan

  2019cites this paper
• Characteristics of rare and private deletions identified in phenotypically normal individuals

  2017cites this paper