PMID- 16652358
OWN - NLM
STAT- MEDLINE
DCOM- 20060727
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 140
IP  - 11
DP  - 2006 Jun 1
TI  - Intrachromosomal triplication 12p11.22-p12.3 and gonadal mosaicism of partial 
      tetrasomy 12p.
PG  - 1219-22
AB  - Cases of tetrasomy 12p and trisomy 12p are known to be associated with specific 
      phenotypic abnormalities well described in the literature. Here, we report on the 
      unusual case of a partial tetrasomy 12p found in an affected patient and in a 
      mosaic constellation in the patient's mother, who showed no phenotypic 
      abnormality. The index patient was a 16-year-old boy with clinical features 
      similar to the "trisomy 12p syndrome" including mental retardation, macrocephaly, 
      a short nose with anteverted nostrils, and a broad protruding lower lip. 
      G-banding analysis and fluorescence in situ hybridization (FISH) experiments 
      using locus specific YAC DNA probes revealed a derivative chromosome 12 with a 
      partial triplication of the short arm with an inverted copy, flanked by two 
      direct copies. Chromosome analyses in parental lymphocytes showed a chromosomal 
      mosaicism in the phenotypically normal mother, with 12% cells exhibiting the same 
      partial tetrasomy 12p as detected in her son. The allelic pattern of short tandem 
      repeats (STR) in the mother's blood DNA showed that a chimerism can be excluded 
      with high probability. To our knowledge, this is the first report of 
      intrachromosomal triplication on chromosome 12, as well as partial tetrasomy 12p 
      mosaicism. Moreover, as a consequence of the chromosomal aberration in the son it 
      can be concluded that a gonadal mosaicism is present in the mother.
CI  - Copyright 2006 Wiley-Liss, Inc.
FAU - Eckel, Heike
AU  - Eckel H
AD  - Institute of Human Genetics, Otto von Guericke University, Magdeburg, Germany.
FAU - Wimmer, Rainer
AU  - Wimmer R
FAU - Volleth, Marianne
AU  - Volleth M
FAU - Jakubiczka, Sibylle
AU  - Jakubiczka S
FAU - Muschke, Petra
AU  - Muschke P
FAU - Wieacker, Peter
AU  - Wieacker P
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/pathology
MH  - Adolescent
MH  - *Chromosome Aberrations
MH  - Chromosome Banding
MH  - Chromosomes, Human, Pair 12/*genetics
MH  - Craniofacial Abnormalities
MH  - Family Health
MH  - Female
MH  - Gonads/metabolism
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability/pathology
MH  - Karyotyping
MH  - Male
MH  - *Mosaicism
EDAT- 2006/05/03 09:00
MHDA- 2006/07/28 09:00
CRDT- 2006/05/03 09:00
PHST- 2006/05/03 09:00 [pubmed]
PHST- 2006/07/28 09:00 [medline]
PHST- 2006/05/03 09:00 [entrez]
AID - 10.1002/ajmg.a.31237 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2006 Jun 1;140(11):1219-22. doi: 10.1002/ajmg.a.31237.