Interstitial 9q34.11-q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip/palate.
Interstitial deletions of chromosome bands 9q34.11-q34.13 are rare. We report on a 16-year-old female patient with severe intellectual disability, congenital hydrocephalus, cleft lip and palate, talipes equinovarus, epilepsy, kyphoscoliosis, convergent strabismus, severe short stature, dystrophy, and facial dysmorphic signs. Array analysis revealed a 3.7 Mb interstitial deletion in 9q34.11-q34.13. The deletion harbors more than 60 genes, including SPTAN1, DYT1/TOR1A, ABL1, ASS1, LAMC3, POMT1, DOLK, and GLE1, mutations in which have previously been associated with monogenic disorders. This is the first patient with a deletion of this size and position in 9q34.11-q34.13. Reports of additional patients with aberrations in this region will be needed to establish karyotype-phenotype correlations and to gain information on the contribution of individual genes for the clinical manifestations.
Institute of Human Genetics, University of Tuebingen, Tuebingen, Germany. andreas.tzschach@med.uni-tuebingen.de
Andreas
A
Tzschach
Ute
U
Grasshoff
Karin
K
Schäferhoff
Michael
M
Bonin
Andreas
A
Dufke
Markus
M
Wolff
Karin
K
Haas-Lude
Andrea
A
Bevot
Olaf
O
Riess
D000293:Adolescent; D002872:Chromosome Deletion; D002899:Chromosomes, Human, Pair 9; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D019066:Facies; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics*