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PMID- 28422838
STAT- In-Process
DA  - 20170419
LR  - 20170419
IS  - 1536-5964 (Electronic)
IS  - 0025-7974 (Linking)
VI  - 96
IP  - 16
DP  - 2017 Apr
TI  - Opposite chromosome constitutions due to a familial translocation
      t(1;21)(q43;q22) in 2 cousins with development delay and congenital anomalies: A 
      case report.
PG  - e6521
LID - 10.1097/MD.0000000000006521 [doi]
AB  - RATIONALE: Chromosomal rearrangements are the major cause of multiple congenital 
      abnormalities and intellectual disability. PATIENT CONCERNS AND DIAGNOSIS: We
      report 2 first cousins with unbalanced chromosomal aberrations of chromosomes 1
      and 21, resulting from balanced familial translocation. Chromosome microarray
      analysis revealed 8.5 Mb1q43q44 duplication/21q22.2q22.3 deletion and 6.8 Mb
      1q43q44 deletion/21q22.2q22.3 duplication. Among other features, cognitive and
      motor development delay and craniofacial anomalies are present in both patients, 
      whereas congenital heart defect and hearing impairment is only present in patient
      carrying 1q43q44 duplication/21q22.2q22.3 deletion. LESSONS: In this report, we
      provide detailed analysis of the phenotypic features of both patients as well as 
      compare our data with previously published reports of similar aberrations and
      discuss possible functional effects of AKT3, CEP170, ZBTB18, DSCAM, and TMPRSS3
      genes included in the deleted and/or duplicated regions. Partial trisomy
      1q/monosomy 21q has only been reported once before, and this is the first report 
      of partial monosomy 1q/trisomy 21q. The expressed phenotype of mirroring
      chromosomal aberrations in our patients supports the previous suggestion that the
      dosage effect of some of the genes included in deleted/duplicated regions may
      result in opposite phenotypes of the patients.
FAU - Aleksiuniene, Beata
AU  - Aleksiuniene B
AD  - aDepartment of Human and Medical Genetics, Faculty of Medicine, Vilnius
      University bFaculty of Medicine, Vilnius University cCentre for Medical Genetics,
      Vilnius University Hospital Santariskiu Klinikos dHematology, Oncology and
      Transfusion Medicine Centre; Vilnius University Hospital Santariskiu Klinikos,
      Vilnius, Lithuania.
FAU - Matuleviciute, Rugile
AU  - Matuleviciute R
FAU - Matuleviciene, Ausra
AU  - Matuleviciene A
FAU - Burnyte, Birute
AU  - Burnyte B
FAU - Krasovskaja, Natalija
AU  - Krasovskaja N
FAU - Ambrozaityte, Laima
AU  - Ambrozaityte L
FAU - Mikstiene, Violeta
AU  - Mikstiene V
FAU - Dirse, Vaidas
AU  - Dirse V
FAU - Utkus, Algirdas
AU  - Utkus A
FAU - Kucinskas, Vaidutis
AU  - Kucinskas V
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Medicine (Baltimore)
JT  - Medicine
JID - 2985248R
EDAT- 2017/04/20 06:00
MHDA- 2017/04/20 06:00
CRDT- 2017/04/20 06:00
AID - 10.1097/MD.0000000000006521 [doi]
AID - 00005792-201704210-00019 [pii]
PST - ppublish
SO  - Medicine (Baltimore). 2017 Apr;96(16):e6521. doi: 10.1097/MD.0000000000006521.

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