PMID- 17937435
OWN - NLM
STAT- MEDLINE
DCOM- 20080107
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 143A
IP  - 22
DP  - 2007 Nov 15
TI  - Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions 
      del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig 
      cephalopolysyndactyly and mental retardation.
PG  - 2738-43
AB  - Complex chromosome rearrangements (CCRs) are rare structural abnormalities that 
      involve at least two chromosomes and more than two breakpoints and are often 
      associated with developmental delay, mental retardation, and congenital 
      anomalies. We report on a de novo, apparently balanced translocation 
      t(1;5;7)(p32.1;q14.3;p21.3) involving three chromosomes in a 7-year-old boy with 
      severe psychomotor retardation, neonatal muscular hypertonia, congenital heart 
      defect, polysyndactyly of hands and feet, and dysmorphic features resembling 
      Greig cephalopolysyndactyly syndrome. Analysis of the chromosome breakpoints 
      using fluorescence in situ hybridization (FISH) with locus-specific BAC clones 
      and long-range PCR products did not identify chromosome imbalance at any of the 
      interrogated regions. High-resolution comparative genomic hybridization (HR-CGH) 
      and array CGH (aCGH) revealed two additional cryptic de novo deletions, 
      del(1)(p31.1p31.1) and del(7)(p14.1p14.1), respectively, that are not associated 
      with the translocation breakpoints. FISH and polymorphic marker analyses showed 
      that the deletion on derivative chromosome 1 is between 4.2 and 6.1 Mb, and the 
      deletion on derivative chromosome 7 is approximately 5.1 Mb, and that both are 
      paternal in origin. The deletion on chromosome 7p encompasses the GLI3 gene that 
      is causative for the Greig cephalopolysyndactyly, Pallister-Hall and some cases 
      of Acrocallosal syndromes. We discuss the potential mechanisms of formation of 
      the described CCR.
CI  - (c) 2007 Wiley-Liss, Inc.
FAU - Borg, Katarzyna
AU  - Borg K
AD  - Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
FAU - Nowakowska, Beata
AU  - Nowakowska B
FAU - Obersztyn, Ewa
AU  - Obersztyn E
FAU - Cheung, Sau Wai
AU  - Cheung SW
FAU - Brycz-Witkowska, Joanna
AU  - Brycz-Witkowska J
FAU - Korniszewski, Lech
AU  - Korniszewski L
FAU - Mazurczak, Tadeusz
AU  - Mazurczak T
FAU - Stankiewicz, Pawel
AU  - Stankiewicz P
FAU - Bocian, Ewa
AU  - Bocian E
LA  - eng
GR  - HD24064/HD/NICHD NIH HHS/United States
GR  - P01 HD39420/HD/NICHD NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
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  - Child
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 1
MH  - Chromosomes, Human, Pair 5
MH  - Chromosomes, Human, Pair 7
MH  - Cytogenetic Analysis
MH  - Humans
MH  - Male
MH  - Syndactyly/*genetics
MH  - Syndrome
MH  - *Translocation, Genetic
EDAT- 2007/10/17 09:00
MHDA- 2008/01/08 09:00
CRDT- 2007/10/17 09:00
PHST- 2007/10/17 09:00 [pubmed]
PHST- 2008/01/08 09:00 [medline]
PHST- 2007/10/17 09:00 [entrez]
AID - 10.1002/ajmg.a.32017 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2007 Nov 15;143A(22):2738-43. doi: 10.1002/ajmg.a.32017.