A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.

doi:10.1002/ajmg.a.32413

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Back to search

Article

A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.

American journal of medical genetics. Part A - 1 Aug 2008

Papa Filomena Tiziana, Mencarelli Maria Antonietta, Caselli Rossella, Katzaki Eleni, Sampieri Katia, Meloni Ilaria, Ariani Francesca, Longo Ilaria, Maggio Angela, Balestri Paolo, Grosso Salvatore, Farnetani Maria Angela, Berardi Rosario, Mari Francesca, Renieri Alessandra

Abstract excerpt

The present report describes a 7-year-old girl with a de novo 3 Mb interstitial deletion of chromosome 14q12, identified by oligo array-CGH. The region is gene poor and contains only five genes two of them, FOXG1B and PRKD1 being deleted also in a previously reported case with a very similar phenotype. Both patients present prominent metopic suture, epicanthic folds, bulbous nasal tip, tented upper lip, everted...

Topics

Abnormalities, Multiple
Child
Chromosome Deletion
Chromosomes, Human, Pair 14
Craniofacial Abnormalities
Female
Forkhead Transcription Factors
Humans
Intellectual Disability

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Karyotyping

Nerve Tissue Proteins

Oligonucleotide Array Sequence Analysis

Phenotype

Polymerase Chain Reaction

Rett Syndrome

Source

Open in PubMed

Identifiers

PMID: 18627055
DOI: 10.1002/ajmg.a.32413

Genes

PRKD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.PMID 18627055Read ↗

14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.Semantic proximity Read ↗

8.6Mb interstitial deletion of chromosome 4q13.3q21.23 in a boy with cognitive impairment, short stature, hearing loss, skeletal abnormalities and facial dysmorphism.Semantic proximity Read ↗

14q13 distal microdeletion encompassing NKX2-1 and PAX9: Patient report and refinement of the associated phenotype.Semantic proximity Read ↗

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.Semantic proximity Read ↗

A de novo 2.1-Mb deletion of 13q12.11 in a child with developmental delay and minor dysmorphic features.Semantic proximity Read ↗

Whole exome sequencing identifies a novel 5 Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures.Semantic proximity Read ↗

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children.Semantic proximity Read ↗

A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes.Semantic proximity Read ↗

Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14.Semantic proximity Read ↗

Expanding the spectrum of microdeletion 4q21 syndrome: a partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and Pierre Robin sequence.Semantic proximity Read ↗

Further defining the critical genes for the 4q21 microdeletion disorder.Semantic proximity Read ↗

Del(14)(q22.1q23.2) in a patient with anophthalmia and pituitary hypoplasiaSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.