ABSTRACT
Two cases of 9p deletion syndrome anda case of partial trisomy 8 and partial monosomy 9p: We report 3 girls with mental retardation (MR), distinctive malformations of the skull and facial region, including trigonocephaly, small palpebral fissures, and unusually midface hypoplasia, congenital heart defects which are characteristics of monosomy 9p. We performed GTG banding and fluorescence in situ hybridization (FISH) method in all cases. By using cytogenetic methods, three terminal deletions of the short arm of the chromosome 9 were identified and in 2 patients the deletion was de novo, and one patient inherited deletion. FISH analysis showed 46,XX,del(9)(pter-p22).ish del(9)(pter-->p22) in two patients and 46,XX,-9,+der(9)t(8;9)(q24.3;p22)pat.ish der(9)t(8;9)(q24.3;p22)pat (305J7-T7x1,wcp8+,wcp9+) in the third patient. This report compares the symptoms and features of our patients with previously reported patients with a 9p deletion syndrome.
Subject(s)
Abnormalities, Multiple/genetics , Chromosome Deletion , Chromosome Disorders/genetics , Chromosomes, Human, Pair 9 , Child, Preschool , Chromosome Banding , Chromosomes, Human, Pair 8 , Female , Genetic Counseling , Humans , In Situ Hybridization, Fluorescence , Infant , Syndrome , TrisomyABSTRACT
We report an 18-year-old Turkish girl with an 18q- deletion and abnormalities of face, mental and growth retardation, mitral deficiency and hypothyroidism. Mitral deficiency has not been reported in 18q deletion syndrome cases previously. We performed cytogenetic and molecular cytogenetic analysis, and brain MRI. Her karyotype was 46,XX,del(18)(q21.2-->qter). This report compares the symptoms and features of the present patient with previously reported cases with 18q syndrome.
Subject(s)
Abnormalities, Multiple/genetics , Chromosome Deletion , Chromosomes, Human, Pair 18 , Intellectual Disability/genetics , Mitral Valve Insufficiency/genetics , Adolescent , Deafness/diagnosis , Deafness/genetics , Ear, External/abnormalities , Echocardiography , Facies , Female , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Mitral Valve Insufficiency/diagnosis , Mitral Valve Prolapse/diagnosis , Mitral Valve Prolapse/genetics , Tricuspid Valve Insufficiency/diagnosis , Tricuspid Valve Insufficiency/genetics , TurkeySubject(s)
Abnormalities, Multiple , Lymphoma, Large B-Cell, Diffuse/etiology , Adolescent , Cleft Lip/complications , Cleft Palate/complications , Ectodermal Dysplasia/complications , Fatal Outcome , Female , Foot Deformities, Congenital/complications , Hand Deformities, Congenital/complications , Humans , Male , SyndromeABSTRACT
Genetic factors are implicated in the response of normal subjects to hepatitis B vaccine. In order to investigate the immunogenetic factors associated with nonresponsiveness to hepatitis B vaccine, 93 health care workers were vaccinated with hepatitis B vaccine. Initial nonresponders (antibody not detected or antibody detected but < 10 mlU/ml) were revaccinated. Only 12 (12.9%) of the 93 health care workers, who had anti-HBs levels of 10 mlU/ml or less after revaccination were defined as absolute nonresponders. HLA typing were performed in these 12 nonresponders, Anti-HBs levels were determined by ELISA method in mlU/ml units. HLA-A,B,C,DR, and DQ typing was performed using the microcytotoxicity test. The HLA-A10 (pc less than 0.01) and CW4 (pc less than 0.006) were decreased whereas DR7 (pc less than 0.09) was increased in nonresponders. Although our initial results suggest the importance of genetic modulation of responsiveness to hepatitis B vaccine, a formal demonstration of the mode of inheritance of unresponsiveness to hepatitis B vaccine and the explanation of the role of genes in this matter will require further studies of families.
