PMID- 31204697
OWN - NLM
STAT- MEDLINE
DCOM- 20191209
LR  - 20200309
IS  - 0973-7731 (Electronic)
IS  - 0022-1333 (Linking)
VI  - 98
IP  - 2
DP  - 2019 Jun
TI  - Williams-Beuren syndrome in Mexican patients confirmed by FISH and assessed by 
      aCGH.
LID - 34 [pii]
AB  - Williams-Beuren syndrome (WBS) has a prevalence of 1/7500-20000 live births and 
      results principally from a de novo deletion in 7q11.23 with a length of 1.5 Mb or 
      1.8 Mb. This study aimed to determine the frequency of 7q11.23 deletion, size of 
      the segment lost, and involved genes in 47 patients with a clinical diagnosis of 
      WBS and analysed by fluorescence in situ hybridization (FISH); among them, 31 had 
      the expected deletion. Micro-array comparative genomic hybridization (aCGH) 
      confirmed the loss in all 18 positive-patients tested: 14 patients had a 1.5 Mb 
      deletion with the same breakpoints at 7q11.23 (hg19: 72726578-74139390) and 
      comprising 24 coding genes from TRIM50 to GTF2I. Four patients showed an atypical 
      deletion: two had a 1.6 Mb loss encompassing 27 coding genes, from NSUN5 to 
      GTF2IRD2; another had a 1.7 Mb deletion involving 27 coding genes, from POM121 to 
      GTF2I; the remaining patient presented a deletion of 1.2 Mb that included 21 
      coding genes from POM121 to LIMK1. aCGH confirmed the lack of deletion in 5/16 
      negative-patients by FISH. All 47 patients had the characteristic facial 
      phenotype of WBS and 45 of 47 had the typical behavioural and developmental 
      abnormalities. Our observations further confirm that patients with a classical 
      deletion present a typical WBS phenotype, whereas those with a high (criteria of 
      the American Association of Pediatrics, APP) clinical score but lacking the 
      expected deletion may harbour an ELN point mutation. Overall, the concomitant 
      CNVs appeared to be incidental findings.
FAU - Ramirez-Velazco, Azubel
AU  - Ramirez-Velazco A
AD  - Division de Genetica, CIBO Instituto Mexicano del Seguro Social Guadalajara 
      Mexico. madq67@yahoo.com.mx.
FAU - Aguayo-Orozco, Thania Alejandra
AU  - Aguayo-Orozco TA
FAU - Figuera, Luis
AU  - Figuera L
FAU - Rivera, Horacio
AU  - Rivera H
FAU - Jave-Suarez, Luis
AU  - Jave-Suarez L
FAU - Aguilar-Lemarroy, Adriana
AU  - Aguilar-Lemarroy A
FAU - Torres-Reyes, Luis A
AU  - Torres-Reyes LA
FAU - Cordova-Fletes, Carlos
AU  - Cordova-Fletes C
FAU - Barros-Nunez, Patricio
AU  - Barros-Nunez P
FAU - Delgadillo-Perez, Saturnino
AU  - Delgadillo-Perez S
FAU - Davalos-Rodriguez, Ingrid Patricia
AU  - Davalos-Rodriguez IP
FAU - Garcia-Ortiz, Jose Elias
AU  - Garcia-Ortiz JE
FAU - Dominguez, Maria G
AU  - Dominguez MG
LA  - eng
PT  - Journal Article
PL  - India
TA  - J Genet
JT  - Journal of genetics
JID - 2985113R
SB  - IM
MH  - Adolescent
MH  - Child
MH  - Child, Preschool
MH  - Chromosome Banding
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 7/*genetics
MH  - Comparative Genomic Hybridization/*methods
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Infant
MH  - Karyotyping
MH  - Male
MH  - Mexico
MH  - Williams Syndrome/diagnosis/*genetics
EDAT- 2019/06/18 06:00
MHDA- 2019/12/18 06:00
CRDT- 2019/06/18 06:00
PHST- 2019/06/18 06:00 [entrez]
PHST- 2019/06/18 06:00 [pubmed]
PHST- 2019/12/18 06:00 [medline]
AID - 34 [pii]
PST - ppublish
SO  - J Genet. 2019 Jun;98(2):34.