19 research outputs found
A boy with conduct disorder (CD), attention deficit hyperactivity disorder (ADHD), borderline intellectual disability, and 47,XXY syndrome in combination with a 7q11.23 duplication, 11p15.5 deletion, and 20q13.33 deletion
Full text linkThe c.504T > C (p.Asn168Asn) polymorphism in the ABCB4 gene as a predisposing factor for intrahepatic cholestasis of pregnancy in Greece
No full textSertoli cell tumor and gonadoblastoma in an untreated 29-year-old 46,XY phenotypic male with Frasier syndrome carrying a WT1 IVS9+4C>T mutation.
No full textRefining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1
No full textIn 1991, a large family was described with an autosomal dominant inheritance of otological and branchial manifestations which was termed branchio-otic syndrome type 2 (BOS2). This trait was mapped by linkage analysis in this family to a region of 23-31 Mb on chromosome 1q25.1q32.1. In the present report we describe the clinical features of two patients with a deletion in this region: one patient has a deletion but no otological or branchial manifestations, the other patient manifests mild conductive hearing loss resulting from bilaterally malformed middle ear ossicles, as well as a preauricular pit. Mapping of the deletion breakpoints allowed to delineate the region involved in BOS2 to a 5.25 Mb region containing 27 protein-coding genes. A detailed medical history of both patients is provided and they are compared with the literature on other detected interstitial deletions of 1q25q32. These findings will aid in the identification of the genetic cause underlying BOS2.status: publishe
Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1
No full textIn 1991, a large family was described with an autosomal dominant
inheritance of otological and branchial manifestations which was termed
branchio-otic syndrome type 2 (BOS2). This trait was mapped by linkage
analysis in this family to a region of 23-31 Mb on chromosome
1q25.1q32.1. In the present report we describe the clinical features of
two patients with a deletion in this region: one patient has a deletion
but no otological or branchial manifestations, the other patient
manifests mild conductive hearing loss resulting from bilaterally
malformed middle ear ossicles, as well as a preauricular pit. Mapping of
the deletion breakpoints allowed to delineate the region involved in
BOS2 to a 5.25 Mb region containing 27 protein-coding genes. A detailed
medical history of both patients is provided and they are compared with
the literature on other detected interstitial deletions of 1q25q32.
These findings will aid in the identification of the genetic cause
underlying BOS2. (C) 2009 Published by Elsevier Masson SAS
