Cleft lip and/or palate in two cases of 46,X,i(Xq) Turner syndrome.
Cleft lip (CL) and/or palate (CP) are uncommon anomalies in Turner syndrome (TS) series. We report two unrelated sporadic 46,X,i(Xq) patients exhibiting orofacial clefts and a peculiar facial appearance masking the clinical diagnosis. CL, and CP in case 1 and CP in case 2, though non-specific of TS, may not be fortuitous findings. The increased frequency of CP and bifid uvula in poly X syndromes, the dermatoglyphic similarities between iXq TS and X polysomies, and the occurrence of Klinefelter phenotype when extra Xq material is present in a male, are all indirect evidences suggesting that Xq material cannot be considered phenotipically inert and facial clefts found in our patients may be syndromal manifestation of trisomic Xq dosage.
Corona-Rivera
J R
JR
Departamento de Fisiología, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Jal., Mexico. rocorona@cucs.udg.mx
Corona-Rivera
E
E
Bobadilla-Morales
L
L
Garcia-Cobia
T A
TA
Corona-Rivera
A
A
D002648:Child; D002675:Child, Preschool; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D006801:Humans; D018404:Isochromosomes; D014424:Turner Syndrome / Q000235:genetics*; D014609:Uvula / Q000002:abnormalities