Further evidence for the involvement of human chromosome 6p24 in the aetiology of orofacial clefting

Chromosomal translocations affecting the 6p24 region have been associated with orofacial clefting. Here we present a female patient with cleft palate, severe growth retardation, developmental delay, frontal bossing, hypertelorism, antimongoloid slant, bilateral ptosis, flat nasal bridge, hypoplastic...

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Veröffentlicht in:	Journal of medical genetics 1998-10, Vol.35 (10), p.857-861
Hauptverfasser:	Davies, A F, Imaizumi, K, Mirza, G, Stephens, R S, Kuroki, Y, Matsuno, M, Ragoussis, J
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Chromosome Mapping Chromosomes, Human, Pair 6 Chromosomes, Human, Pair 9 Cleft Palate - genetics Craniofacial Abnormalities - genetics Face - pathology Facial bones, jaws, teeth, parodontium: diseases, semeiology Female Humans In Situ Hybridization, Fluorescence Infant Karyotyping Medical sciences Non tumoral diseases Otorhinolaryngology. Stomatology Translocation, Genetic
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