PMID- 22302430
OWN - NLM
STAT- MEDLINE
DCOM- 20120604
LR  - 20220316
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 158A
IP  - 3
DP  - 2012 Mar
TI  - Familial 4.8 MB deletion on 18q23 associated with growth hormone insufficiency 
      and phenotypic variability.
PG  - 611-6
LID - 10.1002/ajmg.a.34221 [doi]
AB  - The deletion of the long arm of chromosome 18 causes a contiguous gene deletion 
      syndrome with a highly variable phenotype, usually related to the extent of the 
      deleted region. The most commonly reported clinical features include: decreased 
      growth, microcephaly, facial abnormalities, hypotonia, developmental delay, 
      intellectual disability, congenital aural atresia with hearing impairment and 
      limb anomalies. Here we report on a familial terminal deletion of 18q23 region 
      transmitted from a mother to two daughters, resulting in a remarkable phenotypic 
      variability. The deletion was first detected by conventional cytogenetic analysis 
      in one daughter and subsequently characterized using fluorescence in situ 
      hybridization (FISH) and array-CGH. FISH analysis using subtelomeric 18p and 18q 
      probes confirmed the 18qter deletion in the three patients, and FISH with a whole 
      chromosome painting probe specific for chromosome 18 excluded rearrangements with 
      other chromosomes. Array-CGH analysis allowed us to precisely define the extent 
      of the deletion, which spans 4.8 Mb from 71,236,891 to 76,093,303 genomic 
      positions and includes GALR1 and MBP genes, among others. High-resolution 
      analysis of the deletion, besides a detailed clinical assessment, has provided 
      important data for phenotype-genotype correlation and genetic counseling in this 
      family. Furthermore, this study adds valuable information for phenotype-genotype 
      correlation in 18q- syndrome and might facilitate future search for candidate 
      genes involved in each phenotypic trait.
CI  - Copyright (c) 2012 Wiley Periodicals, Inc.
FAU - Margarit, Ester
AU  - Margarit E
AD  - Biochemistry and Molecular Genetics, Hospital Clinic, Barcelona, Spain. 
      margarit@clinic.ub.es
FAU - Morales, Carme
AU  - Morales C
FAU - Rodriguez-Revenga, Laia
AU  - Rodriguez-Revenga L
FAU - Monne, Raquel
AU  - Monne R
FAU - Badenas, Celia
AU  - Badenas C
FAU - Soler, Anna
AU  - Soler A
FAU - Clusellas, Nuria
AU  - Clusellas N
FAU - Mademont, Irene
AU  - Mademont I
FAU - Sanchez, Aurora
AU  - Sanchez A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20120202
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - 9002-72-6 (Growth Hormone)
SB  - IM
MH  - Body Height/genetics
MH  - Child
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 18
MH  - Comparative Genomic Hybridization
MH  - Female
MH  - Growth Hormone/*deficiency
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Phenotype
EDAT- 2012/02/04 06:00
MHDA- 2012/06/05 06:00
CRDT- 2012/02/04 06:00
PHST- 2010/05/17 00:00 [received]
PHST- 2011/05/23 00:00 [accepted]
PHST- 2012/02/04 06:00 [entrez]
PHST- 2012/02/04 06:00 [pubmed]
PHST- 2012/06/05 06:00 [medline]
AID - 10.1002/ajmg.a.34221 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2012 Mar;158A(3):611-6. doi: 10.1002/ajmg.a.34221. Epub 2012 
      Feb 2.