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Holoprosencephaly, hypertelorism, and ectrodactyly in a boy with an apparently balanced de novo t(2;4)(q14.2;q35)

✍ Scribed by Corona-Rivera, Alfredo; Corona-Rivera, J. Rom�n; Bobadilla-Morales, Lucina; Garc�a-Cobian, Teresa A.; Corona-Rivera, Enrique

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 29 KB
Volume: 90
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(20000228)90:5<423::aid-ajmg12>3.0.co;2-k

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✦ Synopsis

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. Am.

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