Partial tetrasomy 11q resulting from an intrachromosomal triplication of a 22 Mb region of chromosome 11.

Kekis, Mariana

Partial tetrasomy 11q resulting from an intrachromosomal triplication of a 22 Mb region of chromosome 11. [electronic resource] - American journal of medical genetics. Part A Apr 2017 - 1056-1060 p. digital

Publication Type: Case Reports; Journal Article

1552-4833

10.1002/ajmg.a.38098 doi


Abnormalities, Multiple--diagnosis
Child
Chromosomes, Human, Pair 11--chemistry
Craniofacial Abnormalities--diagnosis
Female
Gene Dosage
Humans
In Situ Hybridization, Fluorescence
Intellectual Disability--diagnosis
Karyotyping
Microarray Analysis
Oligonucleotide Array Sequence Analysis
Prognathism--diagnosis
Tetrasomy