Holoprosencephaly, hypertelorism, and ectrodactyly in a boy with an apparently balanced de novo t(2;4) (q14.2;q35).
A holoprosencephaly, hypertelorism, and ectrodactyly syndrome (HHES) was described in three previous cases in whom chromosomes were apparently normal. We report on a 3-year-old boy with HHES and a de novo apparently balanced t(2;4)(q14.2;q35) confirmed by fluorescent in situ hybridization. He had severe growth and mental retardation, lobar holoprosencephaly, hypertelorism, microphthalmos, and iris, choroid, and retina colobomata. Less-severe facial involvement correlates with the semilobar type of holoprosencephaly; limb defects consisted of foot ectrodactyly and syndactyly. All previous HHES cases were sporadic and of unknown cause. A cryptic imbalance secondary to the translocation (2;4) in our patient may explain the phenotype.
Corona-Rivera
A
A
Departamento de Fisiología, Carrera de Medicina, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Jal, México. acorona@cucs.udg.mx
Corona-Rivera
J R
JR
Bobadilla-Morales
L
L
García-Cobian
T A
TA
Corona-Rivera
E
E
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002889:Chromosomes, Human, Pair 2; D002894:Chromosomes, Human, Pair 4; D005532:Foot Deformities, Congenital / Q000235:genetics*; D016142:Holoprosencephaly / Q000235:genetics*; D006801:Humans; D006972:Hypertelorism / Q000235:genetics*; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D014178:Translocation, Genetic / Q000235:genetics*