PMID- 21108400
OWN - NLM
STAT- MEDLINE
DCOM- 20110315
LR  - 20200930
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 152A
IP  - 12
DP  - 2010 Dec
TI  - Molecular characterization of a novel, de novo, cryptic interstitial deletion on 
      19p13.3 in a child with a cutis aplasia and multiple congenital anomalies.
PG  - 3148-53
LID - 10.1002/ajmg.a.33738 [doi]
AB  - We report on a de novo constitutional deletion within G-band region 19p13.3 in a 
      girl with cutis aplasia of the scalp, facial anomalies, structural heart 
      abnormalities, hypotonia, mild mental retardation and conductive hearing loss 
      which we characterized with chromosomal microarray, fluorescence in situ 
      hybridization (FISH), and SNP analyses. Initial microarray analysis revealed a 
      6-BAC-clone deletion covering an approximately 1.612 Mb region within 19p13.3. 
      Subsequent BAC FISH studies delineated the proximal deletion breakpoint to within 
      BAC clone RP11-125C3 and the distal deletion breakpoint to within BAC clone 
      RP11-648B14. SNP analysis showed the deletion to be of paternal origin and 
      further refined its distal breakpoint to within a 20 kb region between rs11666694 
      and novel SNP2 that we identified at g.2,924,845, and its proximal deletion 
      breakpoint to within a 22 kb region between rs35280644 and rs262562. Accordingly, 
      the size of the deletion was revised to 1.89-1.932 Mb in length. We identified 
      many Alu, L1, and L2 repeats, as well as SINE and LINE sequences at both deletion 
      breakpoints. We found the deletion to encompass 71 genes, two of which appear to 
      be good candidates for the patient's observed craniofacial and cardiac anomalies: 
      guanine nucleotide binding protein (G protein), alpha 11 (Gq class)(GNA11), and 
      Transducin-like Enhancer of Split 2 (E(sp1) homolog, Drosophila)(TLE2).
CI  - (c) 2010 Wiley-Liss, Inc.
FAU - Al-Kateb, Hussam
AU  - Al-Kateb H
AD  - Center for Human Genetics Laboratory,University Hospital-Case Medical Center, 
      Case Western Reserve University, 10524 Euclid Ave, 6th Floor, Cleveland, OH 
      44106, USA. hussam.al-kateb@case.edu
FAU - Hahn, Amanda
AU  - Hahn A
FAU - Gastier-Foster, Julie M
AU  - Gastier-Foster JM
FAU - Jeng, Linda
AU  - Jeng L
FAU - McCandless, Shawn E
AU  - McCandless SE
FAU - Curtis, Christine A
AU  - Curtis CA
LA  - eng
PT  - Case Reports
PT  - Comparative Study
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Child, Preschool
MH  - Chromosome Banding
MH  - Chromosome Breakage
MH  - *Chromosome Deletion
MH  - Chromosomes, Artificial, Bacterial
MH  - *Chromosomes, Human, Pair 19
MH  - Comparative Genomic Hybridization
MH  - DNA/genetics
MH  - Ectodermal Dysplasia/*genetics
MH  - Female
MH  - Heart Defects, Congenital/genetics
MH  - Humans
MH  - Intellectual Disability/genetics
MH  - Muscle Hypotonia/genetics
MH  - Oligonucleotide Array Sequence Analysis
MH  - Phenotype
MH  - Physical Chromosome Mapping
MH  - Polymorphism, Single Nucleotide
MH  - Severity of Illness Index
EDAT- 2010/11/26 06:00
MHDA- 2011/03/16 06:00
CRDT- 2010/11/26 06:00
PHST- 2010/11/26 06:00 [entrez]
PHST- 2010/11/26 06:00 [pubmed]
PHST- 2011/03/16 06:00 [medline]
AID - 10.1002/ajmg.a.33738 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2010 Dec;152A(12):3148-53. doi: 10.1002/ajmg.a.33738.