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Article

Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD.

European journal of medical genetics - 1 Jan 2000

Lonardo Fortunato, Parenti Giancarlo, Luquetti Daniela Varela, Annunziata Ida, Della Monica Matteo, Perone Lucia, De Gregori Manuela, Zuffardi Orsetta, Brunetti-Pierri Nicola, Andria Generoso, Scarano Gioacchino

Abstract excerpt

Microdeletions of Xp22.3 can result in contiguous gene syndromes, showing the variable association of apparently unrelated clinical manifestations such as ichthyosis, chondrodysplasia punctata, hypogonadotropic hypogonadism, anosmia, ocular albinism, short stature and mental retardation. We report on a boy with ichthyosis, dysmorphic features and mental retardation with ADHD. The patient was born at term after a...

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Identifiers

PMID: 17591464
DOI: 10.1016/j.ejmg.2007.04.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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