Duplication 6q22-->qter: definition of the phenotype.

doi:10.1002/(sici)1096-8628(19980630)78:2<123::aid-ajmg5>3.0.co;2-p

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Article

Duplication 6q22-->qter: definition of the phenotype.

American journal of medical genetics - 30 Jun 1998

Conrad B A, Higgins R R, Pierpont M E

Abstract excerpt

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 com...

Topics

Abnormalities, Multiple
Chromosomes, Human, Pair 14
Chromosomes, Human, Pair 6
Female
Humans
Infant
Phenotype
Translocation, Genetic

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