Duplication 6q22?qter: Definition of the phenotype

Autor:	Beth A. Conrad, Mary Ella M Pierpont, Rodney R. Higgins
Rok vydání:	1998
Předmět:	medicine.medical_specialty Microcephaly Pediatrics Heart disease business.industry Hearing loss medicine.disease Renal hypoplasia Hypoplasia Developmental disorder Frontal Bossing Endocrinology Internal medicine medicine Webbed neck medicine.symptom business Genetics (clinical)
Zdroj:	American Journal of Medical Genetics. 78:123-126
ISSN:	1096-8628 0148-7299
DOI:	10.1002/(sici)1096-8628(19980630)78:2<123::aid-ajmg5>3.0.co;2-p
Popis:	We report on a girl with duplication of 6q22.32 → qter and microcephaly, frontal bossing, facial anomalies, and webbed neck. She has congenital heart disease, renal hypoplasia, and hearing loss along with severe developmental delay. Published reports of seven other patients are reviewed and compared. The most frequent anomalies include microcephaly, abnormal face, webbed neck, congenital heart disease, limb contractures, and developmental delay. Am. J. Med. Genet. 78:123–126, 1998. © 1998 Wiley-Liss, Inc.
Databáze:	OpenAIRE
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