Temtamy-like syndrome associated with translocation of 2p24 and 9q32.
We describe the phenotype of a 5 year old girl with features resembling Temtamy syndrome, including agenesis of the corpus callosum, ventriculomegaly, frontal bossing, peaked eyebrows, ptosis, malformed and low set ears, a depressed nasal bridge, a long philtrum, and iris and chorioretinal colobomas. Features unique to this child include profound mental retardation, bilateral sensorineural hearing loss, agenesis of the corpus callosum, patent ductus arteriosus, ventricular septal defect, unilateral renal agenesis, neurogenic bladder and hydronephrosis. High resolution chromosome analysis demonstrated a de novo, balanced translocation [46,XX,t(2;9)(p24;q32)]; and her case has some overlapping phenotypic features with cases of monosomy for 2p. This is the first documented case of Temtamy syndrome with a specific chromosomal anomaly, and will assist with the elucidation of the syndrome's underlying genetic defect.
Talisetti
Anita
A
Division of Genetics and Metabolism, Southern Illinois University School of Medicine, Springfield, IL, USA.
Forrester
Shawnia R
SR
Gregory
David
D
Johnson
Lisa
L
Schneider
Michael C
MC
Kimonis
Virginia E
VE
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002889:Chromosomes, Human, Pair 2; D002899:Chromosomes, Human, Pair 9; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D014178:Translocation, Genetic