Pure interstitial duplication of chromosome 7q (7q31.2-->q33) in a 4-year-old girl with growth restriction, short stature, speech delay and intellectual disability.
We report the cytogenetic and molecular characterization of a 22.3-Mb pure interstitial duplication of chromosome 7q, dup(7)(q31.2-->q33) in a 4-year-old girl with growth restriction, short stature, speech delay, inguinal hernia, strabismus and intellectual disability. We speculate that the gene dosage increase effect of the ING3 and LEP genes may be partially responsible for the phenotype of growth restriction and short stature in this patient.
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan. cpc_mmh@yahoo.com
C-P
CP
Chen
S-P
SP
Lin
S-R
SR
Chern
F-J
FJ
Tsai
M-S
MS
Lee
Y-J
YJ
Chen
W
W
Wang
D000483:Alleles; D002675:Child, Preschool; D002871:Chromosome Banding; D058674:Chromosome Duplication / Q000235:genetics*; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006130:Growth Disorders / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D007621:Karyotyping; D007805:Language Development Disorders / Q000175:diagnosis / Q000235:genetics*; D009693:Nucleic Acid Hybridization; D010641:Phenotype