PMID- 24959023
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20140624
LR  - 20211021
IS  - 0971-6866 (Print)
IS  - 1998-362X (Electronic)
IS  - 1998-362X (Linking)
VI  - 20
IP  - 1
DP  - 2014 Jan
TI  - Characterization of a rare short arm heteromorphism of chromosome 22 in a girl 
      with down-syndrome like facies.
PG  - 89-91
LID - 10.4103/0971-6866.132767 [doi]
AB  - Chromosomal heteromorphisms are described as interindividual variation of 
      chromosomes without phenotypic consequence. Chromosomal polymorphisms detected 
      include most regions of heterochromatin of chromosomes 1, 9, 16 and Y and the 
      short arms of all acrocentric chromosomes. Here, we report a girl with 
      Down-syndrome such as facies and tremendously enlarged short arm of a chromosome 
      22. Fluorescence in situ hybridization (FISH) with a probe specific for all 
      acrocentric short arms revealed that the enlargement p arms of the chromosome 22 
      in question contained exclusively heterochromatic material derived from an 
      acrocentric short arm. Parental studies identified a maternal origin of this 
      heteromorphism. Cryptic trisomy 21 of the Down-syndrome critical region was 
      excluded by a corresponding FISH-probe. Here, we report, to the best of our 
      knowledge, largest ever seen chromosome 22 short arm, being ~x1.5 larger than the 
      normal long arm.
FAU - Natiq, Abdelhafid
AU  - Natiq A
AD  - Department of Medical Genetics, National Institute of Health, Morocco, Africa ; 
      Department of Medical Genetics, Faculty of Sciences of Rabat, University Mohamed 
      V Agdal, Morocco, Africa.
FAU - Elalaoui, Siham Chafai
AU  - Elalaoui SC
AD  - Department of Medical Genetics, National Institute of Health, Morocco, Africa ; 
      Human Genomic Center, University Mohamed V Souissi, Rabat, Morocco, Africa.
FAU - Liehr, Thomas
AU  - Liehr T
AD  - Department of Medical Genetics, University of Jena, Institute for Humangenetics, 
      D-07740 Jena, Germany.
FAU - Amzazi, Said
AU  - Amzazi S
AD  - Department of Medical Genetics, Faculty of Sciences of Rabat, University Mohamed 
      V Agdal, Morocco, Africa.
FAU - Sefiani, Abdelaziz
AU  - Sefiani A
AD  - Department of Medical Genetics, National Institute of Health, Morocco, Africa ; 
      Human Genomic Center, University Mohamed V Souissi, Rabat, Morocco, Africa.
LA  - eng
PT  - Case Reports
PL  - India
TA  - Indian J Hum Genet
JT  - Indian journal of human genetics
JID - 101223637
PMC - PMC4065488
OTO - NOTNLM
OT  - Acrocentric p arms
OT  - fluorescence in situ hybridization
OT  - heteromorphism
OT  - karyotype
COIS- Conflict of Interest: None declared.
EDAT- 2014/06/25 06:00
MHDA- 2014/06/25 06:01
PMCR- 2014/01/01
CRDT- 2014/06/25 06:00
PHST- 2014/06/25 06:00 [entrez]
PHST- 2014/06/25 06:00 [pubmed]
PHST- 2014/06/25 06:01 [medline]
PHST- 2014/01/01 00:00 [pmc-release]
AID - IJHG-20-89 [pii]
AID - 10.4103/0971-6866.132767 [doi]
PST - ppublish
SO  - Indian J Hum Genet. 2014 Jan;20(1):89-91. doi: 10.4103/0971-6866.132767.