Partial tetrasomy 14 associated with multiple malformations.

Winberg, Johanna

Partial tetrasomy 14 associated with multiple malformations. [electronic resource] - American journal of medical genetics. Part A Jun 2013 - 1284-90 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1552-4833

10.1002/ajmg.a.35887 doi


Abnormalities, Multiple--genetics
Child
Chromosomes, Human, Pair 14--genetics
Cleft Lip--genetics
Coloboma--genetics
Comparative Genomic Hybridization
Craniosynostoses--genetics
Electron Transport Complex I--deficiency
Female
Gastrointestinal Diseases--genetics
Humans
In Situ Hybridization, Fluorescence
Intellectual Disability--genetics
Karyotyping
Microsatellite Repeats--genetics
Mitochondrial Diseases--metabolism
Models, Genetic
Muscle, Skeletal--metabolism
Seizures--genetics
Sweden
Tetrasomy--genetics