Pure distal 9p deletion in a female infant with cerebral palsy

C-P Chen; S-P Lin; Y-N Su; J-W Su; S-R Chern; D-D Town; W Wang

Pure distal 9p deletion in a female infant with cerebral palsy

Genet Couns. 2012;23(2):215-21.

Authors

C-P Chen¹, S-P Lin, Y-N Su, J-W Su, S-R Chern, D-D Town, W Wang

Affiliation

¹ Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan. cpc_mmh@yahoo.com

PMID: 22876580

Abstract

We report cytogenetic and molecular characterization of a 15.63-Mb pure distal deletion of chromosome 9p (9p22.3-->pter) in a l 1/2-year-old female infant with cerebral palsy and diffuse cerebral dysfunction. The deletion is of paternal origin and encompasses the genes of ANKRDS15, DOCK8, FOXD4 and VLDLR. We discuss the genotype-phenotype correlation in this case with neurological dysfunction and a distal 9p deletion of paternal origin.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / genetics
Adaptor Proteins, Signal Transducing
Cerebral Palsy / genetics*
Chromosome Deletion*
Chromosomes, Human, Pair 9 / genetics
Cytoskeletal Proteins
Female
Forkhead Transcription Factors / genetics*
Guanine Nucleotide Exchange Factors / genetics*
Humans
Infant
Receptors, LDL / genetics*
Tumor Suppressor Proteins / genetics*

Substances

Adaptor Proteins, Signal Transducing
Cytoskeletal Proteins
DOCK8 protein, human
FOXD4 protein, human
Forkhead Transcription Factors
Guanine Nucleotide Exchange Factors
KANK1 protein, human
Receptors, LDL
Tumor Suppressor Proteins
VLDL receptor

Supplementary concepts

Chromosome 9, partial monosomy 9p