PMID- 17057406
OWN - NLM
STAT- MEDLINE
DCOM- 20070426
LR  - 20111117
IS  - 0301-0163 (Print)
IS  - 0301-0163 (Linking)
VI  - 67
IP  - 3
DP  - 2007
TI  - Proximal 19q trisomy: a new syndrome of morbid obesity and mental retardation.
PG  - 105-10
AB  - AIMS: To report on the clinical and metabolic characteristic and the unique 
      chromosomal defect of a mentally retarded and morbidly obese patient. METHODS: A 
      13-year follow-up, including insulin sensitivity, lipid profile and 
      polysomnography studies and various therapeutic interventions are described. The 
      presence of a supernumerary marker in karyotype preparation was further studied 
      by fluorescence in situ hybridization (FISH). Comparative genomic hybridization 
      (CGH) was used to identify the source of the chromosomal marker. RESULTS: Insulin 
      resistance was found by the homeostatic model assessment (HOMA) and the 
      quantitative insulin sensitivity check index (QUICKI). M-FISH identified 
      euchromatin derived from chromosome 19, and CGH confirmed the FISH results and 
      demonstrated that the supernumerary marker derived from 19q12 to 19q13.2. 
      CONCLUSION: The clinical and metabolic characteristics in association with 
      partial chromosomal trisomy differ our patient from the currently known syndromes 
      of obesity and mental retardation. The metabolic impairments in this case can 
      derive from unbalanced expression of several genes in the 19q12-19q13.2 region, 
      genes that are related to adipose tissue homeostasis and insulin resistance. The 
      clinical and genetic similarities to a previously reported case may suggest that 
      partial 19q trisomy is a new syndrome of obesity and mental retardation.
FAU - Zung, Amnon
AU  - Zung A
AD  - Pediatric Endocrinology Unit, Kaplan Medical Center, Hebrew University of 
      Jerusalem, Jerusalem, Israel. amzung2@bezeqint.net
FAU - Rienstein, Shlomit
AU  - Rienstein S
FAU - Rosensaft, Jenny
AU  - Rosensaft J
FAU - Aviram-Goldring, Ayala
AU  - Aviram-Goldring A
FAU - Zadik, Zvi
AU  - Zadik Z
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20061019
PL  - Switzerland
TA  - Horm Res
JT  - Hormone research
JID - 0366126
SB  - IM
MH  - Adolescent
MH  - Chromosome Banding
MH  - *Chromosomes, Human, Pair 19
MH  - Humans
MH  - Insulin Resistance/genetics
MH  - Intellectual Disability/*genetics
MH  - Male
MH  - Obesity, Morbid/*genetics
MH  - Syndrome
MH  - *Trisomy
EDAT- 2006/10/24 09:00
MHDA- 2007/04/27 09:00
CRDT- 2006/10/24 09:00
PHST- 2006/04/19 00:00 [received]
PHST- 2006/07/07 00:00 [accepted]
PHST- 2006/10/24 09:00 [pubmed]
PHST- 2007/04/27 09:00 [medline]
PHST- 2006/10/24 09:00 [entrez]
AID - 96419 [pii]
AID - 10.1159/000096419 [doi]
PST - ppublish
SO  - Horm Res. 2007;67(3):105-10. doi: 10.1159/000096419. Epub 2006 Oct 19.