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Article

Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation.

American journal of medical genetics. Part A - 1 May 2007

Zaki Maha, Shehab Marwa, El-Aleem Alice Abd, Abdel-Salam Ghada, Koeller Hajira B, Ilkin Yesim, Ross M Elizabeth, Dobyns William B, Gleeson Joseph G

Abstract excerpt

Two siblings from a consanguineous Egyptian marriage showed an identical phenotype of cortical lissencephaly with cerebellar hypoplasia, severe epilepsy, and mental retardation. Examination of karyotype revealed 46, t(7;12)(q22;p13)mat (7;12)(q22;p13)pat in both affected children, suggesting a homozygous reciprocal balanced translocation. Each healthy parent was a carrier of the balanced translocation in the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17431900
DOI: 10.1002/ajmg.a.31667

Genes

RELN

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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