Segregation of a 4p16.3 duplication with a characteristic appearance,macrocephaly, speech delay and mild intellectual disability in a 3‐generation family期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Segregation of a 4p16.3 duplication with a characteristic appearance,macrocephaly, speech delay and mild intellectual disability in a 3‐generation family

Authors:	Bitten Schönewolf‐Greulich Kirstine Ravn Bente Hamborg‐Petersen Karen Brøndum‐Nielsen Zeynep Tümer

Affiliation:	1. Genetic Counselling Clinic Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark;2. Correspondence to:;3. Bitten Sch?newolf‐Greulich Genetic Counselling Clinic Kennedy Centre, Gl. Landevej 7, 2600 Glostrup, Copenhagen, Denmark.;4. E‐mail: bitten.schoenewolf-greulich.01@regionh.dk;5. Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark;6. Department of Pediatrics, S?nderborg Sygehus, S?nderborg, Denmark

Abstract:

Keywords:	duplication 4p16.3 syndrome speech delay intellectual disability familial unbalanced chromosome aberration