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Article

Saethre-Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7.

American journal of medical genetics. Part A - 1 Jul 2012

Zechi-Ceide Roseli Maria, Rodrigues Melina Guerreiro, Jehee Fernanda Sarquis, Kokitsu-Nakata Nancy Mizue, Passos-Bueno Maria Rita, Guion-Almeida Maria Leine

Abstract excerpt

The authors describe on a Brazilian girl with coronal synostosis, facial asymmetry, ptosis, brachydactyly, significant learning difficulties, recurrent scalp infections with marked hair loss, and elevated serum immunoglobulin E. Standard lymphocyte karyotype showed a small additional segment in 7p21[46,XX,add(7)(p21)]. Deletion of the TWIST1 gene, detected by Multiplex Ligation Probe-dependent Amplification...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22628249
DOI: 10.1002/ajmg.a.35367

Genes

CISH
DOCK3
HEMK1
MAPKAPK3
SNX13
TWIST1

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.

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