E-resources
Peer reviewed
-
Nowakowska, Beata; Kutkowska‐Kaźmierczak, Anna; Stankiewicz, Paweł; Bocian, Ewa; Obersztyn, Ewa; Ou, Zhishuo; Cheung, Sau Wai; Cai, Wei‐Wen
American journal of medical genetics. Part A, 15 August 2007, Volume: 143A, Issue: 16Journal Article
The underlying genetic cause of mental retardation (MR) remains unknown in about half of the cases. Recently, using whole genome array comparative genomic hybridization (array‐CGH), submicroscopic genetic imbalances have been detected in up to 20% of patients with an unexplained MR, dysmorphic features, and apparently normal karyotype. Here, we present a 12‐year‐old girl with features of basal cell nevus syndrome (BCNS), pulmonary valve stenosis, and MR, in whom array‐CGH identified a 7.7 Mb deletion on 9q22.1–q22.32. The deleted region includes, among others, the ROR2 and PTCH genes. Haploinsufficiency of PTCH causes the BCNS syndrome and mutations in ROR2 have been found in an autosomal recessive Robinow syndrome and a dominantly inherited brachydactyly type 1B. We speculate that haploinsufficiency of ROR2 may contribute to pulmonary valve stenosis. Because of an age‐dependent penetrance, BCNS may be challenging for diagnosis particularly when the features are not part of a typical clinical spectrum of BCNS. Early diagnosis of BCNS is important for preventing the development of associated tumors and better care of the patient. Our data confirm the previous observations that application of the whole genome array‐CGH should be considered in selected patients with undiagnosed MR and dysmorphic features. © 2007 Wiley‐Liss, Inc.
Shelf entry
Permalink
- URL:
Impact factor
Access to the JCR database is permitted only to users from Slovenia. Your current IP address is not on the list of IP addresses with access permission, and authentication with the relevant AAI accout is required.
Year | Impact factor | Edition | Category | Classification | ||||
---|---|---|---|---|---|---|---|---|
JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
Select the library membership card:
If the library membership card is not in the list,
add a new one.
DRS, in which the journal is indexed
Database name | Field | Year |
---|
Links to authors' personal bibliographies | Links to information on researchers in the SICRIS system |
---|
Source: Personal bibliographies
and: SICRIS
The material is available in full text. If you wish to order the material anyway, click the Continue button.