PMID- 15921166
OWN - NLM
STAT- MEDLINE
DCOM- 20050913
LR  - 20111117
IS  - 0363-0269 (Print)
IS  - 0363-0269 (Linking)
VI  - 29
IP  - 2
DP  - 2005
TI  - ATR-16 due to a de novo complex rearrangement of chromosome 16.
PG  - 141-50
AB  - We describe a child with ATR-16 [alpha-thalassemia (thal)/mental retardation], 
      who was referred for genetic evaluation because of minor anomalies and 
      developmental delay. Cytogenetic analysis demonstrated a de novo complex 
      rearrangement of chromosome 16. Fluorescence in situ hybridization (FISH) 
      analysis, using chromosome 16 subtelomeric probes, showed that this patient had a 
      deletion of the distal short arm of chromosome 16 that contains the alpha-globin 
      genes and a duplication of 16q. Analysis of the alpha-globin locus by Southern 
      blot showed a half normal dose of the alpha-globin gene. Microsatellite marker 
      studies revealed that the duplicated 16q region was maternal in origin. 
      Hematological studies revealed anemia, hypochromia and occasional cells with Hb H 
      inclusion bodies. A hematological screening for alpha-thal should be considered 
      in patients with mild developmental delay and a suggestive phenotype of ATR-16 
      with microcytic hypochromic anemia and normal iron status. The stellate pattern 
      of the iris, a new finding in our patient, may contribute to a better clinical 
      delineation of both syndromes, ATR-16 and/or duplication of 16qter.
FAU - Gallego, Marta S
AU  - Gallego MS
AD  - Laboratorio de Citogenetica, Servicio de Genetica, Hospital de Pediatria 
      Professor Dr. Juan P. Garrahan, Buenos Aires, Argentina. mgallego@garrahan.gov.ar
FAU - Zelaya, Gabriela
AU  - Zelaya G
FAU - Feliu, Aurora S
AU  - Feliu AS
FAU - Rossetti, Liliana
AU  - Rossetti L
FAU - Shaffer, Lisa G
AU  - Shaffer LG
FAU - Bailey, Kristen A
AU  - Bailey KA
FAU - Bacino, Carlos A
AU  - Bacino CA
FAU - Barreiro, Cristina Z
AU  - Barreiro CZ
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Hemoglobin
JT  - Hemoglobin
JID - 7705865
RN  - 0 (Hemoglobins, Abnormal)
RN  - 9034-79-1 (Hemoglobin H)
SB  - IM
MH  - *Chromosome Aberrations
MH  - Chromosomes, Human, Pair 16/*genetics
MH  - Cytogenetic Analysis/methods
MH  - DNA Mutational Analysis/methods
MH  - Genotype
MH  - Hemoglobin H/analysis
MH  - Hemoglobins, Abnormal/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Infant
MH  - Intellectual Disability/diagnosis/*genetics
MH  - Male
MH  - Point Mutation/genetics
MH  - Sequence Deletion
MH  - alpha-Thalassemia/diagnosis/*genetics
EDAT- 2005/06/01 09:00
MHDA- 2005/09/15 09:00
CRDT- 2005/06/01 09:00
PHST- 2005/06/01 09:00 [pubmed]
PHST- 2005/09/15 09:00 [medline]
PHST- 2005/06/01 09:00 [entrez]
PST - ppublish
SO  - Hemoglobin. 2005;29(2):141-50.