A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome with a KAT6B 10-base pair palindromic duplication: A recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome.

Niida, Yo; Mitani, Yusuke; Kuroda, Mondo; Yokoi, Ayano; Nakagawa, Hiroyasu; Kato, Akiko

Niida, Yo; Mitani, Yusuke; Kuroda, Mondo; Yokoi, Ayano; Nakagawa, Hiroyasu; Kato, Akiko.

Affiliation

Niida Y; Division of Clinical Genetics, Multidisciplinary Medical Center, Kanazawa Medical University Hospital, Ishikawa, Japan.
Mitani Y; Department of Pediatrics, Institute of Medical, Pharmaceutical and Health Sciences, School of Medicine, Kanazawa University, Ishikawa, Japan.
Kuroda M; Department of Pediatrics, Institute of Medical, Pharmaceutical and Health Sciences, School of Medicine, Kanazawa University, Ishikawa, Japan.
Yokoi A; Department of Pediatrics, Institute of Medical, Pharmaceutical and Health Sciences, School of Medicine, Kanazawa University, Ishikawa, Japan.
Nakagawa H; Department of Pediatrics, Institute of Medical, Pharmaceutical and Health Sciences, School of Medicine, Kanazawa University, Ishikawa, Japan.
Kato A; Department of Pediatrics, Institute of Medical, Pharmaceutical and Health Sciences, School of Medicine, Kanazawa University, Ishikawa, Japan.

Congenit Anom (Kyoto) ; 57(3): 86-88, 2017 May.

Article in En | MEDLINE | ID: mdl-27696664

Subject(s)

Blepharophimosis/diagnosis; Blepharophimosis/genetics; Congenital Hypothyroidism/diagnosis; Congenital Hypothyroidism/genetics; Gene Duplication; Heart Defects, Congenital/diagnosis; Heart Defects, Congenital/genetics; Histone Acetyltransferases/genetics; Intellectual Disability/diagnosis; Intellectual Disability/genetics; Inverted Repeat Sequences; Joint Instability/diagnosis; Joint Instability/genetics; Alleles; Craniofacial Abnormalities/diagnosis; DNA Mutational Analysis; Diagnosis, Differential; Exons; Facies; Genetic Association Studies; Humans; Infant, Newborn; Kidney/abnormalities; Male; Mutation; Patella/abnormalities; Phenotype; Psychomotor Disorders/diagnosis; Radiography; Scrotum/abnormalities; Ultrasonography, Prenatal; Urogenital Abnormalities/diagnosis

Key words

Genitopatellar syndrome; Genotype-phenotype correlation; KAT6B; Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS)

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Blepharophimosis / Gene Duplication / Congenital Hypothyroidism / Histone Acetyltransferases / Inverted Repeat Sequences / Heart Defects, Congenital / Joint Instability / Intellectual Disability Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans / Male / Newborn Language: En Journal: Congenit Anom (Kyoto) Journal subject: TERATOLOGIA Year: 2017 Document type: Article Affiliation country: Japan Country of publication: Australia

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