De novo terminal 22q12.3q13.3 duplication with pituitary hypoplasia.
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Nicola
N
Brunetti-Pierri
Nicola
N
Brunetti-Perri
Ankita
A
Patel
Chester W
CW
Brown
Ronald A
RA
Rauch
Rubina A
RA
Heptulla
D001827:Body Height; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005260:Female; D020440:Gene Duplication; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D010902:Pituitary Gland / Q000002:abnormalities*; D011247:Pregnancy