Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.

doi:10.1002/ajmg.a.30573

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Article

Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.

American journal of medical genetics. Part A - 1 Apr 2005

Descipio Cheryl, Schneider Lori, Young Terri L, Wasserman Nora, Yaeger Dinah, Lu Fengmin, Wheeler Patricia G, Williams Marc S, Bason Lynn, Jukofsky Lori, Menon Ammini, Geschwindt Ryan, Chudley Albert E, Saraiva Jorge, Schinzel Albert A G L, Guichet Agnes, Dobyns William E, Toutain Annick, Spinner Nancy B, Krantz Ian D

Abstract excerpt

We have identified six children in three families with subtelomeric deletions of 6p25 and a recognizable phenotype consisting of ptosis, posterior embryotoxon, optic nerve abnormalities, mild glaucoma, Dandy-Walker malformation, hydrocephalus, atrial septal defect, patent ductus arteriosus, and mild mental retardation. There is considerable clinical overlap between these children and individuals with the...

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PMID: 15704124
DOI: 10.1002/ajmg.a.30573

Genes

FOXC1
FOXF1
FOXQ1

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