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Tytuł pozycji:

Ring chromosome 6 in a child with anterior segment dysgenesis and review of its overlap with other FOXC1 deletion phenotypes.

Tytuł :
Ring chromosome 6 in a child with anterior segment dysgenesis and review of its overlap with other FOXC1 deletion phenotypes.
Autorzy :
Corona‐Rivera, Jorge Román
Corona‐Rivera, Alfredo
Zepeda‐Romero, Luz Consuelo
Rios‐Flores, Izabel Maryalexandra
Rivera‐Vargas, Jehú
Orozco‐Vela, Mireya
Santana‐Bejarano, Uriel Francisco
Torres‐Anguiano, Elizabeth
Pinto‐Cardoso, Manuela
David, Dezső
Bobadilla‐Morales, Lucina
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Temat :
DYSGENESIS
CHROMOSOMES
GONADAL dysgenesis
FACIAL abnormalities
PHENOTYPES
DEAFNESS
Źródło :
Congenital Anomalies; Sep2019, Vol. 59 Issue 5, p174-178, 5p
Czasopismo naukowe
Here, we report a patient with ring chromosome 6 [r(6)], associated with anterior segment dysgenesis (ASD) and other anomalies. The phenotype was due to a 1880 kb microdeletion at 6p25.3 identified by whole‐genome array analysis, and was mainly attributable to a FOXC1 haploinsufficiency. Currently 37 patients with r(6) have been reported. We found that facial dysmorphism, ASD, heart anomalies, brain anomalies, and hearing loss are constant features only in severe cases of r(6), mainly related to hemizygosity of FOXC1. Thus, overlaps with other FOXC1 related phenotypes, such as the 6p25 deletion syndrome, Axenfeld‐Rieger syndrome type 3, and ASD type 3. Contrarily, those patients whose r(6) does not disrupt FOXC1, have mild or moderate phenotypes and do not exhibit ASD. [ABSTRACT FROM AUTHOR]
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