De novo contiguous deletion of F9 and SOX3 genes on the X chromosome in a child with Haemophilia B and partial hypopituitarism

ABSTRACT: Case report of a child with Haemophilia B (factor IX deficiency), partial hypopituitarism, subtle dysmorphism and mild developmental delay, where a 2.31Mb de novo deletion of Xq27.1-q27.2 was identified on array CGH investigations (using a sample from a healthy, annoymous donor as control). This contiguous deletion includes the genes F9 and SOX3 and therefore provides a cause for this patient's abnormal phenotype.

ORGANISM(S): Homo sapiens

SUBMITTER: Charlotte Noakes 

PROVIDER: E-MEXP-3782 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress