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[Subtelomeric deletion 9qter: definition of the syndrome and parental origin in 2 patients].

Abstract:

BACKGROUND AND OBJECTIVE: Subtelomeric chromosome imbalances are increasingly known as a cause for mental retardation. New phenotypes associated with specific rearrangements are also being delineated, such as 9q microdeletion syndrome. Here we define the major phenotypic features and the parental origin of 9q deletion. PATIENTS AND METHOD: We present 2 children with a phenotype that is characterized by mental retardation, distinctive facial features and congenital anomalies. Both patients sh...

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Publisher copy:
10.1157/13100343

Authors


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Journal:
Medicina clinica
Volume:
128
Issue:
11
Pages:
419-421
Publication date:
2007-03-01
DOI:
ISSN:
0025-7753
Source identifiers:
426692
Language:
Spanish; Castilian
Keywords:
Pubs id:
pubs:426692
UUID:
uuid:184d0e69-f7a1-4cd9-9de9-bb693fa40210
Local pid:
pubs:426692
Deposit date:
2013-11-16

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