Discover Community Create You

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

Article

A 10.46 Mb 12p11.1-12.1 interstitial deletion coincident with a 0.19 Mb NRXN1 deletion detected by array CGH in a girl with scoliosis and autism.

American journal of medical genetics. Part A - 1 Jul 2011

Soysal Yasemin, Vermeesch Joris, Davani Nooshin Ardeshir, Hekimler Kuyaş, Imirzalioğlu Necat

Abstract excerpt

We present a 12-year-old girl with de novo karyotype 46,XX,del(12)(p11.1p12.1). Array CGH revealed in addition to a 10.466 Mb interstitial deletion on 12p11.1→12p12.1 a 0.191 Mb deletion on 2p16.3. The girl presented with mild facial dysmorphism consisting of microcephaly, hypertelorism, downslanting palpebral fissures, strabismus, broad nasal base, bulbous nose, short philtrum, micro/retrognathia, irregular...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cell Adhesion Molecules, Neuronal
Share to Chromosome Banding

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 12

Share to Comparative Genomic Hybridization

Share to Neural Cell Adhesion Molecules

Share to Radiography

Share to Scoliosis

Source

Identifiers

PMID: 21626680
DOI: 10.1002/ajmg.a.34101

Genes

NRXN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A 10.46 Mb 12p11.1-12.1 interstitial deletion coincident with a 0.19 Mb NRXN1 deletion detected by array CGH in a girl with scoliosis and autism.PMID 21626680Read ↗

Novel interstitial 2.6 Mb deletion on 9q21 associated with multiple congenital anomalies.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 ↗

A clinical study of patients with pericentromeric deletion and duplication within 16p12.2-p11.2.Semantic proximity Read ↗

Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome.Semantic proximity Read ↗

A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis.Semantic proximity Read ↗

Identification of proximal 1p36 deletions using array‐CGH: a possible new syndromeSemantic proximity Read ↗

A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia.Semantic proximity Read ↗

A de novo deletion of 20q11.2-q12 in a boy presenting with abnormal hands and feet, retinal dysplasia, and intractable feeding difficulty.Semantic proximity Read ↗

Deletion and duplication of 11p13-11p14: reciprocal aberrations derived from a paternal insertion.Semantic proximity Read ↗

11p11.12p12 duplication in a family with intellectual disability and craniofacial anomalies.Semantic proximity Read ↗

Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications.Semantic proximity Read ↗

Severe growth retardation, delayed bone age, and facial dysmorphism in two patients with microduplications in 2p16 → p22Semantic proximity Read ↗

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