Journal article icon

Journal article

A detailed investigation of two cases exhibiting characteristics of the 6p deletion syndrome.

Abstract:

Deletions of the short arm of chromosome 6 are relatively rare, only 16 cases having been described in the literature so far. Here we present a detailed investigation by fluorescence in situ hybridisation of two further cases with different but overlapping interstitial deletions involving 6p22, 6p23 and 6p24. The main features involved are craniofacial malformations, heart and kidney defects, mental retardation/developmental delay, hypotonia and hydrocephalus. By using 36 yeast artificial chr...

Expand abstract
Publication status:
Published

Actions


Access Document


Publisher copy:
10.1007/s004390050239

Authors


Davies, AF More by this author
Olavesen, MG More by this author
Stephens, RJ More by this author
Davidson, R More by this author
Delneste, D More by this author
Expand authors...
Journal:
Human genetics
Volume:
98
Issue:
4
Pages:
454-459
Publication date:
1996-10-05
DOI:
EISSN:
1432-1203
ISSN:
0340-6717
URN:
uuid:43805229-39a0-4248-8fec-6f61d4efad0b
Source identifiers:
71863
Local pid:
pubs:71863

Terms of use


Metrics



If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP