PMID- 17230489
OWN - NLM
STAT- MEDLINE
DCOM- 20070409
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 143
IP  - 4
DP  - 2007 Feb 15
TI  - De novo proximal duplication of 1(q12q22) in a female infant with multiple 
      congenital anomalies.
PG  - 338-42
AB  - Reports of small proximal 1q duplications are rare. We report a 1 month-old 
      female who was referred to clinic because she was believed to have features 
      suggestive of Turner syndrome. The patient's dysmorphic features included a 
      prominent nose, low-set and crumpled ears, slightly high palate, short neck, 
      high-pitched cry, mild micrognathia, hypoplastic labia majora, and somewhat deep 
      palmar creases. Traditional G-band chromosome studies of the patient were 
      interpreted as 46,XX,dup(1)(q12q21). To further evaluate the extent of the 
      chromosome 1 duplication, Spectral Karyotyping and a series of six fluorescence 
      in situ hybridization (FISH) probes were utilized. The FISH probes refined the 
      extent of the duplication to involve the region 1(q12q22) indicating the 
      duplicated segment was larger than interpreted by the G-banding studies. This 
      first case of non-mosaic proximal duplication of 1q to be characterized by 
      multiple locus specific FISH probes should allow a more refined delineation of 
      the phenotypic findings and clinical significance associated with this rare 
      chromosomal duplication.
CI  - (c) 2007 Wiley-Liss, Inc.
FAU - Sawyer, Jeffrey R
AU  - Sawyer JR
AD  - Cytogenetics Laboratory, Department of Pathology, University of Arkansas for 
      Medical Sciences, Little Rock 72204, USA. sawyerjeffreyr@uams.edu
FAU - Binz, Regina Lichti
AU  - Binz RL
FAU - Swanson, Charles M
AU  - Swanson CM
FAU - Lim, Cynthia
AU  - Lim C
LA  - eng
PT  - Case Reports
PT  - Journal Article
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
MH  - Chromosome Banding
MH  - *Chromosomes, Human, Pair 1
MH  - Craniofacial Abnormalities/genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - *Trisomy
EDAT- 2007/01/19 09:00
MHDA- 2007/04/10 09:00
CRDT- 2007/01/19 09:00
PHST- 2007/01/19 09:00 [pubmed]
PHST- 2007/04/10 09:00 [medline]
PHST- 2007/01/19 09:00 [entrez]
AID - 10.1002/ajmg.a.31604 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2007 Feb 15;143(4):338-42. doi: 10.1002/ajmg.a.31604.