PMID- 17506097
OWN - NLM
STAT- MEDLINE
DCOM- 20080124
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 143A
IP  - 12
DP  - 2007 Jun 15
TI  - Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis 
      in a patient with limb malformations, microcephaly and mental retardation.
PG  - 1348-53
AB  - We describe the cytogenetic diagnosis using BAC- and oligonucleotide microarrays 
      of a 16-year-old Laotian-American female, who first presented at 2 1/2 years of 
      age with microcephaly, developmental retardation, and skeletal abnormalities of 
      the upper limb including mild syndactyly of the second and third and the third 
      and fourth fingers, short middle phalanges and clinodactyly of the fifth digit at 
      the distal interphalangel joint on both hands, and symphalangism of the 
      metacarpal-phalangeal joints of the second and fifth digits bilaterally. Her 
      lower limbs displayed symphalangism of the metatarsal-phalangeal joint of the 
      second, third, and fourth digits on both feet, with fusion of the middle and 
      distal phalanges of the second and fifth digits and hallux valgus bilaterally. 
      G-banded chromosomal study at age 4 was normal. However, comparative genomic 
      hybridization at age 15 with the Spectral Genomics 1 Mb Hu BAC array platform 
      indicated a microdeletion involving two BAC clones, RP11-451F14 --> RP11-12N7 at 
      2q31.1. The maximal deletion on initial analysis comprised the HOXD cluster, 
      which is implicated in limb development. Fluorescence in situ hybridization 
      (FISH) using the RP11-451F14 probe confirmed the deletion. Both parents were 
      negative for the deletion. Additional FISH using BAC RP11-387A1, covering the 
      HOXD cluster, limited the maximal deletion to approximately 2.518 Mb, and 
      excluded involvement of the HOXD cluster. The Agilent 44K and 244K platforms 
      demonstrated a deletion of approximately 2,011,000 bp, which did not include the 
      HOXD cluster. The malformations in our patient may be caused by deletion of a 
      regulatory element far upstream of the HOXD cluster.
FAU - Svensson, Annika M
AU  - Svensson AM
AD  - Cytogenetics Laboratory, Department of Pediatrics, University of Utah, Salt Lake 
      City, UT 84132-2117, USA.
FAU - Curry, Cynthia J
AU  - Curry CJ
FAU - South, Sarah T
AU  - South ST
FAU - Whitby, Heidi
AU  - Whitby H
FAU - Maxwell, Teresa M
AU  - Maxwell TM
FAU - Aston, Emily
AU  - Aston E
FAU - Fisher, Jamie
AU  - Fisher J
FAU - Carmack, C E
AU  - Carmack CE
FAU - Scheffer, Alicia
AU  - Scheffer A
FAU - Abu-Shamsieh, Aimee
AU  - Abu-Shamsieh A
FAU - Brothman, Arthur R
AU  - Brothman AR
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Abnormalities, Multiple/*genetics/pathology
MH  - Adolescent
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 2/*genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability/*genetics/pathology
MH  - Limb Deformities, Congenital/*genetics/pathology
MH  - Microcephaly/*genetics/pathology
MH  - Nucleic Acid Hybridization
EDAT- 2007/05/17 09:00
MHDA- 2008/01/25 09:00
CRDT- 2007/05/17 09:00
PHST- 2007/05/17 09:00 [pubmed]
PHST- 2008/01/25 09:00 [medline]
PHST- 2007/05/17 09:00 [entrez]
AID - 10.1002/ajmg.a.31775 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2007 Jun 15;143A(12):1348-53. doi: 10.1002/ajmg.a.31775.