Document Detail

Temtamy-like syndrome associated with translocation of 2p24 and 9q32.
MedLine Citation:
PMID:  14564155     Owner:  NLM     Status:  MEDLINE    
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.
Anita Talisetti; Shawnia R Forrester; David Gregory; Lisa Johnson; Michael C Schneider; Virginia E Kimonis
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical dysmorphology     Volume:  12     ISSN:  0962-8827     ISO Abbreviation:  Clin. Dysmorphol.     Publication Date:  2003 Jul 
Date Detail:
Created Date:  2003-10-20     Completed Date:  2004-03-15     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9207893     Medline TA:  Clin Dysmorphol     Country:  England    
Other Details:
Languages:  eng     Pagination:  175-7     Citation Subset:  IM    
Division of Genetics and Metabolism, Southern Illinois University School of Medicine, Springfield, IL, USA.
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MeSH Terms
Abnormalities, Multiple / genetics*
Child, Preschool
Chromosomes, Human, Pair 2*
Chromosomes, Human, Pair 9*
Face / abnormalities
Translocation, Genetic*

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