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

Abstract:

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 nasal alae, protruding upper lip, microretrognathia, bilateral, low set, and posteriorly rotated ears, bilateral microtia, narrow ear canals, short neck, and a karyotype of 46,XX,t(6;9)(p24;p23). ...

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Publication status:
Published

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Publisher copy:
10.1136/jmg.35.10.857

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Journal:
Journal of medical genetics More from this journal
Volume:
35
Issue:
10
Pages:
857-861
Publication date:
1998-10-01
DOI:
EISSN:
1468-6244
ISSN:
0022-2593
Language:
English
Keywords:
Pubs id:
pubs:71872
UUID:
uuid:a11aafd6-3335-484a-82ba-cd2ef02f6573
Local pid:
pubs:71872
Source identifiers:
71872
Deposit date:
2012-12-19

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