PMID- 15723300
OWN - NLM
STAT- MEDLINE
DCOM- 20050509
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 134
IP  - 3
DP  - 2005 Apr 30
TI  - Mosaic tetrasomy 14pter-q13 due to a supernumerary isodicentric derivate of 
      proximal chromosome 14q.
PG  - 305-8
AB  - Tetrasomy of proximal 14q is an extremely rare condition and has never been 
      reported to be associated with survival. We here report on the first case of 
      mosaic tetrasomy of 14pter-q13 due to a de-novo supernumerary pseudoisodicentric 
      chromosome in a 2-year-old boy with multiple dysmorphisms and malformations. The 
      marker was detectable in nearly 25% of lymphocytes as well as in cells from 
      buccal mucosa. Detailed fluorescence in situ hybridization (FISH) analyses 
      allowed the characterization of the marker to entirely consist of proximal 14q 
      material and to be symmetric. The pattern of clinical features in our patient 
      only slightly correspond to that of patients with trisomy of proximal 14q, but 
      further cases are needed to define whether tetrasomy of proximal 14q is a 
      separate entity.
FAU - Eggermann, Thomas
AU  - Eggermann T
AD  - Institute of Human Genetics, University Hospital Aachen, Aachen, Germany. 
      teggermann@ukaachen.de
FAU - Gamerdinger, Ulrike
AU  - Gamerdinger U
FAU - Bosse, Kristin
AU  - Bosse K
FAU - Heidrich-Kaul, Christiane
AU  - Heidrich-Kaul C
FAU - Raff, Ruth
AU  - Raff R
FAU - Meyer, Esther
AU  - Meyer E
FAU - Heil, Ingeborg
AU  - Heil I
FAU - Schuler, Herdit
AU  - Schuler H
FAU - Korsch, Eckhard
AU  - Korsch E
FAU - Schwanitz, Gesa
AU  - Schwanitz G
LA  - eng
PT  - Case Reports
PT  - Comparative Study
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - *Aneuploidy
MH  - Child, Preschool
MH  - Chromosome Banding
MH  - Chromosome Disorders/genetics/pathology
MH  - Chromosomes, Human, Pair 4/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - *Mosaicism
RF  - 11
EDAT- 2005/02/22 09:00
MHDA- 2005/05/10 09:00
CRDT- 2005/02/22 09:00
PHST- 2005/02/22 09:00 [pubmed]
PHST- 2005/05/10 09:00 [medline]
PHST- 2005/02/22 09:00 [entrez]
AID - 10.1002/ajmg.a.30631 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2005 Apr 30;134(3):305-8. doi: 10.1002/ajmg.a.30631.