PMID- 11397326
OWN - NLM
STAT- MEDLINE
DCOM- 20051031
LR  - 20220210
IS  - 1098-3600 (Print)
IS  - 1098-3600 (Linking)
VI  - 2
IP  - 2
DP  - 2000 Mar-Apr
TI  - Characteristics of two cases with dup(15)(q11.2-q12): one of maternal and one of 
      paternal origin.
PG  - 131-5
AB  - PURPOSE: The phenotype correlations for interstitial duplications that include 
      the Prader-Willi/Angelman syndrome critical region are not well established. We 
      describe two such duplication cases, one of which was of maternal origin and the 
      other was paternal. METHODS: High resolution G-banding, fluorescence in situ 
      hybridization (FISH) for SNRP-N and D15S10 were used for cytogenetic analysis. 
      Southern blot analyses based on parent of origin specific DNA methylation at 
      D15S63 (PW71) locus were utilized for detection of methylated and unmethylated 
      fragments. RESULTS: The duplication was established by the FISH analysis. The 
      molecular pattern suggested a maternal origin of the duplication in patient 1 and 
      a paternal origin in patient 2. Patient 1 (2 years old) had developmental and 
      speech delays with pervasive developmental disorder or mild autism, strabismus, 
      and normal growth parameters with seizures. Patient 2 (16 years old) had global 
      developmental delay, verbal IQ of 94, depression, obesity, food-seeking behavior, 
      and significant behavioral problems that included self-injurious tendencies. 
      Neither patient had significant dysmorphic features or abnormalities of internal 
      organs. CONCLUSION: The two cases suggest that some patients with 15q11.2q12 
      duplication may have significant anomalies, and there appear to be phenotypic 
      differences between maternal and paternal transmission of the duplication.
FAU - Mao, R
AU  - Mao R
AD  - Mayo Clinic, Rochester, MN 55905, USA.
FAU - Jalal, S M
AU  - Jalal SM
FAU - Snow, K
AU  - Snow K
FAU - Michels, V V
AU  - Michels VV
FAU - Szabo, S M
AU  - Szabo SM
FAU - Babovic-Vuksanovic, D
AU  - Babovic-Vuksanovic D
LA  - eng
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Genet Med
JT  - Genetics in medicine : official journal of the American College of Medical 
      Genetics
JID - 9815831
SB  - IM
MH  - *Chromosomes, Human, Pair 15
MH  - *Gene Duplication
MH  - *Genomic Imprinting
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
RF  - 18
EDAT- 2001/06/09 10:00
MHDA- 2005/11/01 09:00
CRDT- 2001/06/09 10:00
PHST- 2001/06/09 10:00 [pubmed]
PHST- 2005/11/01 09:00 [medline]
PHST- 2001/06/09 10:00 [entrez]
AID - S1098-3600(21)00255-0 [pii]
AID - 10.1097/00125817-200003000-00003 [doi]
PST - ppublish
SO  - Genet Med. 2000 Mar-Apr;2(2):131-5. doi: 10.1097/00125817-200003000-00003.