title: Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of Holt-Oram and ulnar-mammary syndromes.
abstract: We report on a combination of congenital malformations in a mother and her fetus harboring a heterozygous deletion encompassing the TBX5 and TBX3 genes, which are disease-causing in Holt-Oram and ulnar-mammary syndromes, respectively. This contiguous gene syndrome is reminiscent of Okihiro syndrome and emphasizes the importance of array-CGH as a diagnostic tool in atypical syndromic presentations with intrafamilial variability.
authors.affiliation: Obstetrics and Gynecology Department, Hôpital Necker-Enfant Malades, AP-HP, Paris, France.
authors.forename: Caroline
authors.initials: C
authors.lastname: Alby
authors.forename: Bettina
authors.initials: B
authors.lastname: Bessieres
authors.forename: Eric
authors.initials: E
authors.lastname: Bieth
authors.forename: Tania
authors.initials: T
authors.lastname: Attie-Bitach
authors.forename: Laurent
authors.initials: L
authors.lastname: Fermont
authors.forename: Isabelle
authors.initials: I
authors.lastname: Citony
authors.forename: Ferechté
authors.initials: F
authors.lastname: Razavi
authors.forename: Michel
authors.initials: M
authors.lastname: Vekemans
authors.forename: Fabienne
authors.initials: F
authors.lastname: Escande
authors.forename: Sylvie
authors.initials: S
authors.lastname: Manouvrier
authors.forename: Valérie
authors.initials: V
authors.lastname: Malan
authors.forename: Jeanne
authors.initials: J
authors.lastname: Amiel
mesh_terms: D000015:Abnormalities, Multiple / Q000209:etiology / Q000235:genetics*; D000328:Adult; D001941:Breast Diseases / Q000209:etiology / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006330:Heart Defects, Congenital / Q000209:etiology / Q000235:genetics*; D006344:Heart Septal Defects, Atrial / Q000209:etiology / Q000235:genetics*; D006801:Humans; D038061:Lower Extremity Deformities, Congenital / Q000209:etiology / Q000235:genetics*; D010641:Phenotype; D011247:Pregnancy; D020825:T-Box Domain Proteins / Q000235:genetics*; D014457:Ulna / Q000002:abnormalities*; D038062:Upper Extremity Deformities, Congenital / Q000209:etiology / Q000235:genetics*; D055815:Young Adult
chemical_list: D020825:T-Box Domain Proteins; C103172:T-box transcription factor 5; C106884:TBX3 protein, human